RxPG News : Genetics

A tall story? Genes do manipulate height

Mon, 07 Apr 2008 09:41:15 PST

New York, April 7 - Scientists now have a far clearer picture of what makes some people tall - and others not so.

Large gap between Genomic Medicine and Clinical practice

Tue, 18 Mar 2008 09:31:45 PST

A large gap exists between what knowledge is available about genomic medicine and incorporating it into clinical practice for assessing the risk of and treating common chronic diseases, such as cardiovascular disease, diabetes mellitus, and cancer, according to a systematic review in the March 19 issue of JAMA, a theme issue on Genetics and Genomics.

Moving an active gene from the interior of the nucleus can silence genes , preventing their transcription . scientists report .

Thu, 14 Feb 2008 04:00:00 PST

Moving an active gene from the interior of the nucleus to its periphery can inactivate that gene report scientists from the University of Chicago Medical Center .

Europe's most common genetic disease is a liver disorder

Wed, 06 Feb 2008 20:55:00 PST

Much less widely known than the dangerous consequences of iron deficiencies is the fact that too much iron can also cause problems. The exact origin of the genetic iron overload disorder hereditary hemochromatosis (HH) has remained elusive. In a joint effort, researchers from the European Molecular Biology Laboratory (EMBL) and the University of Heidelberg, Germany, have now discovered that HH is a liver disease. They report in the current issue of Cell Metabolism that the disorder develops when a crucial gene is lacking in liver cells.

Genetic variations may predispose some men to suicidal thoughts during treatment for depression

Thu, 07 Jun 2007 16:00:00 PST

Genetic variations may help explain why some men with depression develop suicidal thoughts and behaviors after they begin taking antidepressant medications, while most do not, according to a report in the June issue of Archives of General Psychiatry, one of the JAMA/Archives journals.

Switching genes to overdrive improves muscular dystrophy symptoms in mice

Sun, 01 Apr 2007 11:56:50 PST

Scientists at Dana-Farber Cancer Institute have shown in a laboratory study that revving up a crucial set of muscle genes counteracts the damage caused by a form of muscular dystrophy.

Gene mutation associated with X-linked mental retardation revealed

Mon, 19 Mar 2007 22:53:10 PST

Researchers have identified a novel gene mutation that causes X-linked mental retardation for which there was no previously known molecular diagnosis, according to an article to be published electronically on Tuesday, March 20, 2007 in The American Journal of Human Genetics.

RNA Silencing Sheds Light on the RNA World

Tue, 05 Dec 2006 07:51:55 PST

RNA silencing — also known as RNA interference — is an intriguing phenomenon in which short, double-stranded RNA “triggers” can prevent the expression of specific genes. First discovered in plants, RNA interference is now recognized as a widespread, if not ubiquitous, phenomenon, and it is causing great excitement as an experimental technique for selectively blocking gene expression.

Link between Huntington's and abnormal cholesterol levels in brain discovered

Sun, 03 Dec 2006 15:10:30 PST

Mayo Clinic researchers have discovered a protein interaction that may explain how the deadly Huntington's disease affects the brain. The findings, published in and featured on the cover of the current issue of Human Molecular Genetics, show how the mutated Huntington's protein interacts with another protein to cause dramatic accumulation of cholesterol in the brain.

Reinventing Human genome

Thu, 23 Nov 2006 16:27:05 PST

Geneticists have generally assumed that your string of DNA 'letters' is 99.9% identical to that of your neighbour's, with differences in the odd individual letter. These differences make each person genetically unique — influencing everything from appearance and personality to susceptibility to disease. But hold on, say the authors of a new study published in Nature. They have identified surprisingly large chunks of the genome that can differ dramatically from one person to the next.

Wnt reactivates dormant limb regeneration program

Sat, 18 Nov 2006 13:52:57 PST

Chop off a salamander's leg and a brand new one will sprout in no time. But most animals have lost the ability to replace missing limbs. Now, a research team at the Salk Institute for Biological Studies has been able to regenerate a wing in a chick embryo – a species not known to be able to regrow limbs - suggesting that the potential for such regeneration exists innately in all vertebrates, including humans.

New research into csd genes could help designing strategies for breeding honey bees

Fri, 27 Oct 2006 16:46:00 PST

Three years ago, scientists pinpointed a gene called csd that determines gender in honey bees, and now a research team led by University of Michigan evolutionary biologist Jianzhi "George" Zhang has unraveled details of how the gene evolved.

Williams Syndrome, the brain and music

Thu, 05 Oct 2006 00:58:00 PST

Children with Williams syndrome, a rare genetic disorder, just love music and will spend hours listening to or making music. Despite averaging an IQ score of 60, many possess a great memory for songs, an uncanny sense of rhythm, and the kind of auditory acuity, than can discern differences between different vacuum cleaner brands.

Genetic mutation identified as cause of cranio-lenticulo-sutural dysplasia

Fri, 29 Sep 2006 16:08:00 PST

A research team led by a UC Davis Childrens Hospital scientist has identified a genetic mutation as the cause of a congenital craniofacial birth defect called cranio-lenticulo-sutural dysplasia. The mutation closes off a pathway that is vital to the transport of cellular proteins and, in doing so, significantly alters normal growth patterns of skeletal and connective tissue. The research finding, which appears in the October issue of Nature Genetics , is independently confirmed in a Vanderbilt University Medical Center study published in the same issue

Chance Fluctuations in mRNA Output in Mammalian Cells

Wed, 13 Sep 2006 03:44:00 PST

In the drama of cell biology, both genetics and environment write the script, and chance throws in the twists of plot. In general, most cells live relatively predictable lives: divide, differentiate, and die. Yet chance leaves its imprint even in ordinary cells. For instance, bacterial or yeast cells in culture are known to produce widely different amounts of certain proteins, even when they are genetically identical. Scientists attribute such cell-to-cell variations to chance fluctuations in the cellsâ ability to make these proteins. They also speculate that such fluctuations may benefit the cells in their struggle to adapt and survive.

Transposon Silencing Keeps Jumping Genes in Their Place

Wed, 13 Sep 2006 03:40:00 PST

Nearly a century ago, two geneticists described ârogueâ pea plants with an unorthodox pattern of inheritance. William Bateson and Caroline Pellew found that crossing inferior rogues with normal plants always produced rogue offspring, suggesting that the rogue appearance was a dominant trait. The real surprise came when rogue progeny were crossed back to normal plants. Following the principles of Mendelian inheritance, these crosses should have produced a mix of normal and rogue plants, but they produced only rogue plants. The phenomenon, later dubbed âparamutation,â allowed the rogues to break the rules by acting âepigeneticallyââinducing heritable changes in gene expression without DNA mutations. In one-sided interactions between gene pairs, or alleles, only âparamutagenicâ alleles can attenuate, and eventually silence, the expression of âparamutableâ alleles.

GATA2 - predicting susceptibility to coronary artery disease

Sat, 26 Aug 2006 02:15:00 PST

Variations in a gene that acts as a switch to turn
on other genes may predispose individuals to heart disease, an international team of researchers led by Duke University Medical Center scientists has discovered.

Exploring genetics of congenital malformations

Sat, 19 Aug 2006 21:42:00 PST

New research published in the August issue of the Journal of Cell Biology explains for the first time why congenital heart defects so often occur with limb deformities. In their research into the molecular mechanisms that control embryonic limb and heart development, Northwestern University researcher Hans-Georg Simon and his laboratory group recently identified a new protein, LMP4, which binds and regulates activity of the Tbx4 and Tbx5 transcription factors. Tbx5 and Tbx4 proteins play a key role in limb and heart formation in virtually all vertebrates, from fish to birds to mice to humans.

Genome insertions and deletions (INDELs) provide expanded view of human genetic differences

Fri, 11 Aug 2006 14:19:00 PST

Emory University scientists have identified and created a map of more than 400,000 insertions and deletions (INDELs) in the human genome that signal a little-explored type of genetic difference among individuals. INDELS are an alternative form of natural genetic variation that differs from the much-studied single nucleotide polymorphisms (SNPs). Both types of variation are likely to have a major impact on humans, including their health and susceptibility to disease.

BRIT1 gene identified as protector of DNA

Sun, 06 Aug 2006 11:17:00 PST

A single gene plays a pivotal role launching two DNA damage detection and repair pathways in the human genome, suggesting that it functions as a previously unidentified tumor suppressor gene, researchers at The University of Texas M. D. Anderson Cancer Center report in Cancer Cell.

FDA Approves Idursulfase As First Treatment for Hunter Syndrome

Wed, 02 Aug 2006 12:30:00 PST

The Food and Drug Administration (FDA) approved Elaprase (idursulfase), the first product for the treatment of Hunter syndrome (Mucopolysaccharidosis II, or MPS II), a rare inherited disease which can lead to premature death. Elaprase is a new molecular entity, which is an active ingredient never before marketed in the United States.

PARP1 inhibitors can protect Huntington's disease affected cells from damage

Sun, 30 Jul 2006 02:41:00 PST

An enzyme known to be critical for the repair of damaged cells and the maintenance of cellular energy may be a useful target for new strategies to treat Huntington's disease (HD) and other disorders characterized by low cellular energy levels. In the August issue of Chemistry & Biology, a research team from the MassGeneral Institute for Neurodegenerative Disease (MIND) describes their discovery of a novel inhibitor of Poly (ADP-ribose) polymerase (PARP1) and their findings that PARP1 inhibitors can protect HD-affected cells from damage in laboratory assays.

Genetic Gender Gap in Disease Risk, Drug Response

Mon, 10 Jul 2006 06:29:00 PST

UCLA researchers report that thousands of genes behave differently in the same organs of males and females something never detected to this degree. Published in the August issue of Genome Research, the study sheds light on why the same disease often strikes males and females differently, and why the genders may respond differently to the same drug.

'Molecular assassin' targets disease gene

Wed, 05 Jul 2006 15:16:00 PST

University of New South Wales (UNSW) researchers have announced they are developing a new class of experimental drug that has the potential to treat a diverse range of health problems, from inflammation and cancer through to eye and heart disease.

Scientists Uncover Rules for Gene Amplification

Fri, 30 Jun 2006 13:17:00 PST

Gene amplification plays an important role in causing cancers via activation of oncogenes. If scientists can determine the rules as to which segments of genetic material become amplified and how, oncologists and drug researchers may be able to interrupt that process and prevent the formation and growth of some tumors. Using yeast as a model organism, researchers at the Georgia Institute of Technology have discovered that the location of a hairpin-capped break relative to the end of the chromosome will determine the fate of the amplification event.

Gene therapy protects neurons in Huntington's disease

Fri, 30 Jun 2006 03:02:00 PST

Researchers at Rush University Medical Center, Chicago, and Ceregene Inc., San Diego, have successfully used gene therapy to preserve motor function and stop the anatomic, cellular changes that occur in the brains of mice with Huntington's disease (HD). This is the first study to demonstrate that, using this delivery method, symptom onset might be prevented in HD mice with this treatment.

DNA damage resets the cellular circadian clock

Fri, 30 Jun 2006 02:42:00 PST

Dartmouth Medical School geneticists have discovered that DNA damage resets the cellular circadian clock, suggesting links among circadian timing, the cycle of cell division, and the propensity for cancer. Their work, reported June 29 in Science Express, the advance electronic publication of Science, implies a protective dimension for the biological clock in addition to its pacemaker functions that play such a sweeping role in the rhythms and activities of life.

Human cells use complex system of transcription-factor combinations

Mon, 19 Jun 2006 01:22:00 PST

Scientists eager to help develop a new generation of pharmaceuticals are studying cellular proteins called transcription factors, which bind to upstream sequences of genes to turn the expression of those genes on or off. Some pharmaceutical companies are also hoping to develop drugs that selectively block the binding of transcription factors as a way to short-circuit the harmful effects of diseases, and researchers at the University of California, San Diego on June 16 reported new findings that could aid that effort.

Huntingtin cleavage is caused by caspase-6

Sat, 17 Jun 2006 20:10:00 PST

Researchers at the University of British Columbia's Centre for Molecular Medicine and Therapeutics (CMMT) have provided ground-breaking evidence for a cure for Huntington disease in a mouse offering hope that this disease can be relieved in humans.

The risk of transmission of genetic disorders through donor's sperm

Fri, 19 May 2006 19:25:00 PST

As medical technology continues to advance, fertility procedures such as in-vitro fertilization and donor insemination are becoming more commonplace. However, a study in the May issue of The Journal of Pediatrics warns that, even after thorough screenings of sperm donors, genetic disorders can be transmitted to the conceived children.

How can DNA be damaged

Thu, 18 May 2006 02:58:00 PST

Researchers have known for years that damaged DNA can lead to human diseases such as cancer, but how damage occurs--and what causes it--has remained less clear.

Could cellular defenses against sunlight be the key to effective gene therapy?

Tue, 25 Apr 2006 19:33:00 PST

An early study has demonstrated for the first time that laser light can target gene therapy right up to the edge of damaged cartilage, while leaving nearby healthy tissue untouched, according to an article published in the April edition of the Journal of Bone and Joint Surgery. True repair of injuries to articular cartilage would enable millions of patients, currently consigned to worsening arthritis and joint replacement, to return to athletic exercise.

Liver transplants provide metabolic cure for maple syrup urine disease

Tue, 11 Apr 2006 22:28:00 PST

Liver transplants cured the metabolic symptoms of 11 patients with a rare but devastating genetic condition known as Maple Syrup Urine Disease (MSUD), according to a study by researchers from Children's Hospital of Pittsburgh and the Clinic for Special Children.

Gene therapy helps two Germans in global first

Mon, 03 Apr 2006 14:38:00 PST

For the first time, gene therapy has been used to alter the cells of sick adults and allow them greater resistance to bacteria and fungi, a Germany-based team of scientists said.

Mutations Change the Boolean Logic of Gene Regulation

Wed, 29 Mar 2006 06:39:00 PST

It is easy to think of a gene acting like a light bulb, switching either on or off, remaining silent, or being transcribed by the RNA-making machinery. The region of DNA that controls the gene's output is called its regulatory region, and in this simple (and too simplistic) scenario, that region would act like a simple onoff switch.

Synthetic biology experiment turns up a previously unrecognized gene-expression phenomenon

Thu, 16 Feb 2006 19:47:00 PST

An experiment designed to show how a usually innocuous bacterium regulates the expression of an unnecessary gene for green color has turned up a previously unrecognized phenomenon that could partially explain a feature of bacterial pathogenicity.

Spinocerebellar ataxia type 5 (SCA5) gene pinpointed

Mon, 23 Jan 2006 16:12:00 PST

Researchers at the University of Minnesota Medical School have discovered the gene responsible for a type of ataxia, an incurable degenerative brain disease affecting movement and coordination.

MDC1 protein amplifies DNA injury signals

Sat, 21 Jan 2006 15:39:00 PST

A Mayo Clinic-led research collaboration has discovered that the protein MDC1 amplifies weak DNA injury signals so genetic repair can begin. Once amplified, even low-level damage signals become strong enough to activate the cell's natural repair processes while the injury is most tractable to repair. How this "distress call" was communicated wasn't clear until this finding, which appears in the January 20 issue of Molecular Cell. The research was conducted in collaboration with colleagues from Harvard University and the University of Texas, Austin.

Breakthrough in master gene mapping

Thu, 19 Jan 2006 12:46:00 PST

Researchers have broken new ground with their work on the key tumour suppressor gene "p53", raising hopes of better detection and treatment of cancer, a published report said Thursday.

Research points to possible therapy to prevent congenital skull malformation

Sun, 25 Dec 2005 00:56:00 PST

Craniofacial researchers have developed an animal model that explains how skull malformations occur and how they might be prevented. Birth defects of the face and skull are relatively common in humans, striking one in 500 to 1,000 babies. Defects can include cleft lip or palate, congenitally missing teeth and severe malformations of the skull. A group led by Yang Chai, chair of the division of craniofacial sciences and therapeutics in the USC School of Dentistry, has identified the genetic factor leading to malformation of the forehead and frontal part of the skull. The discovery was published online Dec. 20 by the journal Development. Children with frontal bone defects lack vital protection for their brain. They also may develop bulging, irregularly shaped heads.

Scientists probe connection between regulatory DNA and disease

Sat, 17 Dec 2005 15:34:00 PST

Through the Human Genome Project, the HapMap Project and other efforts, we are beginning to identify genes that are modified in some diseases. More difficult to measure and identify are the regulatory regions in DNA the 'managers' of genes that control gene activity and might be important in causing disease.

Detailed analysis of the dog genome published

Thu, 08 Dec 2005 20:05:00 PST

An international team, led by researchers at the Broad Institute of MIT and Harvard, today announced the publication of the genome sequence of the dog. In the Dec. 8 issue of the journal Nature, the researchers present a detailed analysis of the dog genome and describe how the data offer the potential for improving the health of man and man's best friend. Efforts to create the genetic tools needed for mapping disease genes in dogs have gained momentum over the last 15 years, and already include a partial survey of the poodle genome. More than two years ago, Kerstin Lindblad-Toh, Ph.D., co-director of the genome sequencing and analysis program at the Broad Institute, and her colleagues embarked on a two-part project to assemble a complete map of the dog genome. In the first phase, they acquired high-quality DNA sequence covering nearly 99 percent of the dog genome, from a female boxer named Tasha. The boxer was chosen as a representative of the average purebred dog to produce what has become a reference sequence for the dog genome community. Using the sequence information as a genetic "compass," they navigated the genomes of 10 different dog breeds and other related canine species, including the gray wolf and coyote. In this sampling, they pinpointed tiny spots of genetic variation, called single nucleotide polymorphisms (SNPs), which serve as recognizable signposts that can be used to locate the causes of genetic disease.

Bias in Reporting of Genetic Association Studies

Tue, 22 Nov 2005 16:01:00 PST

One of the tools in the scientist's armory for resolving a medical issue or consolidating a body of clinical trials is the systematic review of the published medical literature. This technique involves doing a literature search and critical appraisal of individual studies, and in addition, may also use statistical techniques to combine the results of these studies. One of the aims of such reviews is to assess and then, ideally, include all appropriate studies that address the question of the review. But finding all studies is not always possible, and researchers have no way of knowing what they have missed. But does it matter if some studies are left out?

Japanese haplotypes would help in identifying genes associated with disease and drug response

Sat, 29 Oct 2005 16:29:00 PST

Researchers at Kyushu University of Japan, in collaboration with Perlegen Sciences, Inc., have identified common patterns of human DNA sequence variation, or haplotypes, in the Japanese population. By combining a unique set of DNA samples collected at the Medical Institute of Bioregulation at Kyushu University with Perlegens high throughput, whole-genome analysis approach, based on next generation Affymetrix GeneChip ® technology, the collaborators identified common haplotypes that can be used to conduct comprehensive genetic research on human disease and variable response to medicines.

Combination Model Controls Alternative mRNA Splicing

Wed, 26 Oct 2005 16:02:00 PST

In 1977, a flurry of papers ushered in a radical new concept in molecular biologyâthe idea of RNA splicing. It had been known for some years that the information for building organisms is stored as DNA sequences, which are transcribed into messenger RNAs (mRNAs) before translation into proteins. Although it had been established that the DNA and mRNA sequences line up exactly in bacteria, molecular biologists began to suspect in the mid-1970s that the genomes of eukaryotes (organisms with nuclei) are organized somewhat differently. Eukaryotic genes, it turns out, are encoded in small sections scattered over enormous distances of DNA. To make proteins from these âsplit genes,â the whole length of DNA is transcribed into pre-mRNA and then converted into mRNA by spliceosomesâmolecular machines that remove the non-coding pieces of RNA (the introns) and splice together the protein-coding pieces (the exons).

Scientists find structure (Htz1 nucleosome) relevant to cell growth and cancer

Sat, 22 Oct 2005 02:40:00 PST

Researchers discovered a special type of molecular structure that helps keep genes properly turned off until the structure is ejected from those genes in a regulated manner to help turn the genes on. The discovery is reported in the Oct. 21 issue of the journal Cell by scientists from the Huntsman Cancer Institute at the University of Utah. In all organisms, the genome is split into chromosomes (compressed long strands of DNA) which are subdivided into functional DNA segments called genes. Genes function as the blueprints for building particular pieces of cellular machinery. However, different types of cells each require different types of cellular machinery, and must produce that machinery according to a biological timetable. A central issue in molecular biology is finding out how a cell regulates which genes are on, or active, and which genes are off, or repressed. This topic has direct relevance to human disease, as improper activation or repression of genes that regulate cellular growth is a common feature of cancer cells.

Farnesyl Transferase Inhibitors in Hutchinson-Gilford progeria syndrome

Wed, 28 Sep 2005 13:20:00 PST

Johns Hopkins scientists have discovered that a drug currently being tested against cancers might help children with a rare, fatal condition called Hutchinson-Gilford progeria syndrome, which causes rapid, premature aging.
Children with progeria appear normal until they're 6 months to a year old, but then begin developing symptoms normally associated with old age -- wrinkled skin, hair loss, brittle bones and atherosclerosis, which usually causes their deaths by about age 13. There's no known treatment.

Gene Responsible for Chronic pain syndrome found

Tue, 27 Sep 2005 06:57:00 PST

In a significant advance toward understanding a perplexing and painful neurological disorder, an international team of researchers has discovered gene mutations associated with an inherited chronic pain and weakness syndrome known as hereditary neuralgic amyotrophy (also called HNA). No treatment is known for this disabling condition, which short-circuits a peripheral nerve center called the brachial plexus, a network of over 100,000 nerves, that branches from the spinal cord to supply muscular function and sensation to the shoulders, arms, and hands.

Clioquinol, an antibiotic shows new promise for Huntington's Disease

Mon, 12 Sep 2005 18:14:00 PST

Clioquinol, an antibiotic that was banned for internal use in the United States in 1971 but is still used in topical applications, appears to block the genetic action of Huntington's disease in mice and in cell culture, according to a study reported by San Francisco VA Medical Center (SFVAMC) researchers.

Chimp Genome Offer Clues To Human Diseases

Fri, 09 Sep 2005 17:52:00 PST

The recently published Chimp Genome Sequencing project highlights the similarities between humans and our closest genetic cousins, the great apes. But a researcher at UCSD suggests it is in the differences, rather than the similarities, that clues to understanding human disease might be found.

Cloning after Dolly - Professor Ian Wilmut Talks

Tue, 06 Sep 2005 00:09:00 PST

The leader of the team that produced Dolly the sheep, the first animal to develop after nuclear transfer from an adult cell, will present a talk at the University of Glasgow on Wednesday 7 September about the future of this area of research.

Scientists get look at genes defensive playbook

Tue, 06 Sep 2005 00:01:00 PST

Using a new method to identify networks of infection-fighting genes, scientists writing in todays (8-31) online edition of Nature say more than 15 percent of our genes are mobilized to defend against microbial attacks.

New method identified the specific gene involved with high cholesterol

Sun, 04 Sep 2005 10:08:00 PST

Until now, the genetic causes of diseases such as cancer, heart disease, and diabetes, have proven very elusive. A new approach, reported in Elsevier's journal Genomics, may soon put an end to this. Scientists have successfully used this method to identify the specific gene involved with high cholesterol.

A Cobweb of Life?

Wed, 31 Aug 2005 02:16:00 PST

The tree of life has long served as a useful tool for describing the history and relationships of organisms over evolutionary time. One species is represented as a branching point, or node, on the tree, and the branches represent paths of descent from a parental node. The tree diagram carries an implicit assumption that genes are transferred vertically, from parent to child, and that all the genes in a new species come from the ancestral species. In theory, one should be able to trace the origin of each gene in a species back to its ancestor. In practice, however, the ancestral gene is rarely available, so researchers look for the gene in a closely related species.

Improved Statistical Tools Reveal Many Linked DNA Loci

Wed, 31 Aug 2005 02:06:00 PST

Using traditional statistical tools to analyze the modern wealth of biological data is a bit like trying to move a muscle car with a buggy whipyou're not likely to get anywhere very fast. The problem is perhaps most acute in the quest to understand how genes interact to regulate one another's expression. The amount of RNA made by any one gene is likely influenced by DNA at dozens of loci, or locations around the genome. Such loci are often situated within genes that participate in the same pathway as the gene being influenced, and a central goal is to understand this network of mutually influential genes and loci. Consider piecing together this puzzle for each of the many thousands of genes and many thousands of potentially influential loci, and the old analytical tools simply can't keep up. In this issue of PLoS Biology, John Storey and colleagues tackle the challenge with a new approach.

Anti-cancer drugs might work in aging disease

Tue, 30 Aug 2005 19:45:00 PST

Working together, scientists at the National Institutes of Health and the University of North Carolina at Chapel Hill have developed a promising new strategy for treating a form of progeria. That rare but deadly and heartbreaking genetic disease causes children to age remarkably fast and die almost always before they complete their teens.

Lamin research project provides clues about premature aging

Tue, 30 Aug 2005 19:42:00 PST

A step towards understanding cell mutations that cause a variety of human diseases, particularly in children -- including that which brings about premature aging and early death -- has been taken by researchers at the Hebrew University of Jerusalem Silberman Institute of Life Sciences and the John Hopkins University School of Medicine.

Drug prevents cell abnormality leading to progeria

Tue, 30 Aug 2005 19:39:00 PST

Genetic disease causes accelerated aging, death in children

Farnesyltransferase inhibitors (FTIs) might be useful in Hutchinson-Gilford Progeria Syndrome

Tue, 30 Aug 2005 19:33:00 PST

In a surprising development, a research team led by the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health (NIH), has found that a class of experimental anti-cancer drugs also shows promise in laboratory studies for treating a fatal genetic disorder that causes premature aging.

Cell-Autonomous Death of Cerebellar Purkinje Neurons with Autophagy in Niemann-Pick Type C Disease

Mon, 25 Jul 2005 17:13:00 PST

Niemann-Pick disease type C is a deadly neurodegenerative disease that is most often due to mutations in a gene called npc1. As a consequence of intracellular lipid trafficking defects, patients with Niemann-Pick type C, and mice with the same disease, lose an important class of cerebellar neurons called Purkinje cells (PCs).

A Human-Curated Annotation of the Candida albicans Genome

Mon, 25 Jul 2005 17:13:00 PST

Candida albicans is a commonly encountered fungal pathogen usually responsible for superficial infections (thrush and vaginitis). However, an estimated 30% of severe fungal infections, most due to Candida, result in death. Those who are most at risk include individuals taking immune-suppressive drugs following organ transplantation, people with HIV infection, premature infants, and cancer patients undergoing chemotherapy.

Lorenzo's oil (LO) reduced the risk of developing severe X-linked adrenoleukodystrophy (ALD)

Tue, 12 Jul 2005 12:26:00 PST

Treatment of boys with X-linked adrenoleukodystrophy (ALD) with Lorenzo's oil (LO) reduced their risk of developing the severe debilitating form of the disease, according to a study in the July issue of the Archives of Neurology, one of the JAMA/Archives journals.

Genes play an overriding role in cholesterol response

Sun, 10 Jul 2005 15:11:00 PST

Why does it seem like some people can eat all the ice cream they want without increasing their cholesterol or gaining much weight, while others with high cholesterol have to watch their diets like a hawk? Because no matter what their lifestyle, people's genes play an overriding role in their cholesterol response.

Master switch in cell death discovered

Fri, 01 Jul 2005 12:52:00 PST

Researchers at UT Southwestern Medical Center have found an enzyme vital for controlling the early stages of cell death - a beneficial and normal process when it works right, but malignant in a variety of cancers when it malfunctions.

New Gene Regulation System Revealed

Wed, 22 Jun 2005 12:50:00 PST

By comparing 140 sequenced bacterial genomes, researchers have uncovered a system for regulating genes essential to bacterial replication - and they did it solely by computer keystrokes and mouse clicks.

Lack of coherent cloning policies reflects polarized debate

Fri, 20 May 2005 02:31:00 PST

The confusing welter of state laws regarding human cloning for reproductive purposes and for research uses reflects a national political impasse on regulating cloning, according to a new report by The Genetics & Public Policy Center, a project of The Pew Charitable Trusts and Johns Hopkins University. This lack of a national consensus comes at a time when rapid advances in cloning technology make crafting broader public policy increasingly urgent, the report notes. "While human cloning technology is still in its infancy, the science is outpacing the public's understanding and the formulation of coherent public policy," it warns.

Exercise Training in Ordinary People Activates 500 Genes

Tue, 03 May 2005 13:21:00 PST

A new study from Karolinska Institutet in Stockholm shows that hundreds of genes in the thigh muscle are activated in regular cycle training. The study also reveals that great differences in training response may be due to the ability in some people to activate their genes much more forcefully.

A 3D Map of Human Chromosomes

Wed, 27 Apr 2005 02:27:00 PST

On this, theologians, philosophers, and biologists can agree: we are more than the sum of our genes. Biological complexity arises not from gene number but from patterns of gene expression, which change under the direction of both genetic and so-called epigenetic mechanisms. Epigenetics, broadly defined, concerns heritable changes in gene function that dont involve changes in DNA sequence. Until recently, studies of heritable traits have focused largely on mutations in DNA. But its become increasingly clear that how DNA is packaged in the nucleus also impacts heritability.

An Enzyme That Oversees RNA Quality Control

Tue, 19 Apr 2005 17:12:00 PST

The path from DNA to RNA to protein sounds straightforward enough, but few processes in the life of a cell could be called simple.

Exon Silencing Regulated by a Trio of Short RNA Motifs

Tue, 19 Apr 2005 17:12:00 PST

Our cells make many more kinds of proteins than can be accounted for by the relatively modest number of genes in our genome. The key to this protein-coding bounty is alternative splicing, in which one or more transcribed exonsnucleotide sequences that code for a specific segment of the proteinare excluded from the final messenger RNA before it is translated into protein.

Understanding the interaction of Fragile X mental retardation protein and kissing complex RNAs

Mon, 18 Apr 2005 04:57:00 PST

Fragile X syndrome is the most common inherited form of mental retardation, affecting approximately 1 in 3600 males and 1 in 4000-6000 females.

New Gene for Charcot-Marie-Tooth Disease Involved in Cell Transport

Wed, 13 Apr 2005 00:21:00 PST

Charcot-Marie-Tooth disease (CMT), which affects the peripheral nerves, comes in several forms and is due to mutation in a variety of genes.

Roberts Gene ESCO2 Discovered to be behind "PSEUDOTHALIDOMIDE" Syndrome

Tue, 12 Apr 2005 13:02:00 PST

A team of scientists from Colombia, the United States and elsewhere has successfully completed a 15-year-plus search for the genetic problems behind the very rare Roberts syndrome, whose physical manifestations often include cleft lip and palate and shortened limbs that resemble those of babies whose mothers took thalidomide during pregnancy.

Common Factor Discovered behind Myocardial Infarction, Rheumatism and MS

Mon, 11 Apr 2005 20:58:00 PST

A common gene variant has been identified as the risk factor behind a number of common diseases by research scientists at Karolinska Institutet and the Centre for Molecular Medicine (CMM), Stockholm, Sweden. Up to a quarter of the population could be affected.

Researchers Discover Largest "Gene Deserts"

Fri, 08 Apr 2005 03:59:00 PST

Potential therapeutic target for Huntington's disease

Thu, 07 Apr 2005 18:14:00 PST

Researchers studying yeast cells have identified a metabolic enzyme as a potential therapeutic target for treating Huntington's disease, a fatal inherited neurodegenerative disorder for which there is currently no effective treatment.

Where Do All Those Genes Come From?

Wed, 06 Apr 2005 16:28:00 PST

An important source of genetic novelty is the introduction of new genes. Since most genes in an organisms genome are under selective constraint, opportunities for the evolution of new gene functionswhich in turn might confer selective advantagemost often arise when new genes enter the genome.

Single Quantitative Trait Loci (QTLs) with a Large Effect on Body Size

Wed, 06 Apr 2005 16:28:00 PST

The presence of a small number of discrete formsas you find in a classic Mendelian trait like eye colorsuggests that the phenotype is controlled by a very small number of genes. In contrast, a complex trait such as body size is influenced by multiple genes as well as environmental factors, giving rise to a continuous spectrum of phenotypes.

Novel Data-Mining Approach Systematically Links Genes to Traits

Wed, 06 Apr 2005 16:28:00 PST

With exponential advances in computing power over the past ten years, data-generating capacity has far outpaced anyones ability to mine the rich seams of information. This is especially true in the field of genomics.

New Gene Therapy using Homologous Recombination

Wed, 06 Apr 2005 16:23:00 PST

Harnessing the strength of a natural process that repairs damage to the human genome, a researcher from UT Southwestern Medical Center has helped establish a method of gene therapy that can accurately and permanently correct mutations in disease-causing genes.

RNA interference (RNAi) improved Huntington's disease Symptoms

Tue, 05 Apr 2005 17:14:00 PST

Researchers at the University of Iowa Roy J. and Lucille A. Carver College of Medicine have taken another step toward a potential treatment for Huntington's disease (HD).

Putting a finger on shortened digits

Sun, 03 Apr 2005 13:44:00 PST

Brachydactyly is a group of inherited disorders of the hands that are characterized by shortened fingers and abnormal joint formation.

Analysis of X chromosome Completed

Sun, 03 Apr 2005 11:34:00 PST

By intensely and systematically comparing the human X chromosome to genetic information from chimpanzees, rats and mice, a team of scientists from the United States and India has uncovered dozens of new genes, many of which are located in regions of the chromosome already tied to disease.

The Fate of Duplicated Genes

Thu, 31 Mar 2005 22:07:00 PST

Providing insight into the evolution of biological complexity, Steven Maere et al. have developed a computer model that simulates the fate of genes that arise from small-scale local duplications and duplications involving the entire genome.

Rare Mutation that Speeds up the Biological Clock

Thu, 31 Mar 2005 15:35:00 PST

Scientists have identified a gene and mutation within it that causes a rare sleep behavior, in which individuals have a "fast" biological clock. The gene's enzyme could lead to a therapeutic target for the disrupted sleep patterns seen in such groups as those facing jet lag or nighttime work shifts.

Transcription Factors Control Snapdragon Asymmetry

Wed, 30 Mar 2005 06:45:00 PST

RAD, a transcription factor expressed in the dorsal region of a developing snapdragon (Antirrhinum majus), helps coordinate the genes that control the flower's unique asymmetrical shape, according to Susie Corley et al.

STAT6(B) - New Gene which regulate Tumor Necrosis Factor Alpha (TNF-alpha) Cytokine

Tue, 29 Mar 2005 15:24:00 PST

In a paper featured today in Proceedings of the National Academy of Science (PNAS), researchers from Boston University School of Dental Medicine report the discovery of a new gene, STAT6(B), that helps regulate production of the potentially deadly tumor necrosis factor alpha (TNF-alpha) cytokine. TNF-alpha is involved in inflammatory disorders such as Crohn's disease, rheumatoid arthritis, and irritable bowel syndrome. The paper is the first by a dental school researcher to be chosen as a featured article in PNAS.

A Small RNA That Neutralizes a Protein Linked to Tumor Development

Tue, 22 Mar 2005 20:51:00 PST

For most of human history, cancer has been incurable. But with the invention of anesthesia in the mid-19th century, surgeons were able to remove some forms of cancer surgically.

Research Sheds New Light on the Role Of Sex Chromosomes in Health and Disease

Mon, 21 Mar 2005 18:54:00 PST

The National Institutes of Health (NIH) hailed the first comprehensive analysis of the sequence of the human X chromosome, saying that this provides sweeping new insights into the evolution of sex chromosomes and the biological differences between males and females.

Genomic Analysis may one day be a Primary Diagnostic Tool for Trauma

Fri, 18 Mar 2005 22:30:00 PST

Genomic analysis may one day be a primary diagnostic tool for physicians deciding on a course of treatment for trauma and other critically ill patients in the intensive care unit (ICU), according to a new study by a national collaboration of more than 70 physicians and scientists.

Gene Enhancers Upset Evolutionary Assumption

Fri, 18 Mar 2005 17:31:00 PST

A standard evolutionary assumption is that the DNA of closely related species should be more similar in both structure and function than that of more distantly related ones.

White Collar Proteins Help Fungi Do It in the Dark

Fri, 18 Mar 2005 17:31:00 PST

Fungi live mainly in the dark, and they like it that wayout of the sunlight, they can avoid desiccation and damage from ultraviolet rays. The ability to sense light, therefore, is adaptive for fungi of all kinds.

New Light on the Role of Sex Chromosomes

Thu, 17 Mar 2005 19:16:00 PST

"mats" - Mob As Tumor Suppressor Gene Discovered by Penn State Researchers

Fri, 11 Mar 2005 16:35:00 PST

A new tumor-suppressor gene has been discovered by a team of researchers at Penn State, which also has discovered how the gene works with another tumor suppressor to control tissue growth. The team's genetic and biochemical studies will be published in the 11 March 2005 issue of the journal Cell. "This discovery extends our understanding of how tissue growth is controlled both during normal development and during the formation of tumors, and it raises the possibility that the function of this gene may have important implications for the understanding and treatment of human cancers," says research leader Zhi-Chun Lai, associate professor of biology, biochemistry, and molecular biology.

Knowledge of the 3D structure should provide insights into how telomerase works

Thu, 10 Mar 2005 16:20:00 PST

UCLA biochemists have determined the three-dimensional structure of a major domain of telomerase, the enzyme that helps maintain telomeres small pieces of DNA on the ends of chromosomes that act as protective caps -- allowing DNA ends to be copied completely when cells are replicated.

How Position Affects Gene Expression in the Nucleus

Fri, 04 Mar 2005 23:07:00 PST

Control of gene expression plays a role in determining cell fate, differentiation, and the maintenance of specific cell lineages. In the absence of regulation, aberrant gene expression can lead to developmental defects and disease. As a result, gene expression is highly regulated and that regulation takes many forms. Control mechanisms may be specific to one gene or operate on a gross chromosomal level, ultimately ensuring that genes are expressed at the right time, in the right place.

Shugoshin Protects SA2 at Centromeres but Not at Chromosome Arms

Fri, 04 Mar 2005 23:07:00 PST

DNA replication leaves the cell with two identical copies of each chromosome. To ensure their proper segregation during the anaphase stage of mitosis, the members of each pair, called sister chromatids, are held together by a protein complex, aptly named cohesin, that links the two not only at the centromere, but also along the chromatid arms. Anaphase is triggered when cohesin is cleaved, by the equally well-named separase. But cleavage is not the only way to remove cohesin from the chromosome; indeed, in humans and other higher eukaryotes, mitotic kinases such as Plk1 remove the majority of cohesin from chromosome armsbut not from the centromereduring prophase and prometaphase.

Recombination as a Way of Life: Viruses Do It Every Day

Fri, 04 Mar 2005 23:07:00 PST

In theory, a cells nuclear membrane guards its contents by barring access to potential foes. In reality, pathogens employ a diverse bag of tricks to circumvent this barrier. The murine leukemia virus (a retrovirus), for example, waits until the nuclear membrane degrades during cell division. Other retroviruses, like HIV and so-called pararetroviruses, enlist protein escorts that help them slip through undetected.

The Chimp Genome Reveals a Retroviral Invasion in Primate Evolution

Fri, 04 Mar 2005 23:07:00 PST

Its been known for a long time that only 2%3% of human DNA codes for proteins. Much of the rest of our genomesoften referred to as junk DNAconsists of retroelements: genomic elements that are transcribed into RNA, reverse-transcribed into DNA, and then reinserted into a new spot in the genome. Human endogenous retroviruses make up one class of these retroelements. Retroviruses can insinuate themselves into the hosts DNA in either soma (nonreproductive cells) or the germline (sperm or egg).

First genomic-based test to predict stroke from ruptured brain aneurysm

Fri, 04 Mar 2005 21:00:00 PST

Physicians and researchers have long been puzzled by the discrepancy between the large numbers of people with brain aneurysms -- 10 to 15 million people in the U.S. -- and the incidence of aneurysms rupturing in a relatively small fraction of those people. Doctors knew some aneurysms were more prone to rupture, but didn't know why. They suspected genes played a role, but lacked convincing studies supporting this hypothesis. The Mayo Clinic research team had previously done extensive work with a molecule (nitric oxide synthase) known to play a pivotal role in the endothelium. The endothelium is the lining of the blood vessels that is very important to maintaining smooth blood flow. Disrupted blood flow in brain arteries is associated with increased risk of stroke. The Mayo team's previous work showed that when the amount of this molecule is increased using a gene therapy approach, the arteries relax and maintain smooth, healthy flow.