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Clinical significance of diminished protein Z in plasma
Jan 9, 2005, 15:18, Reviewed by: Dr.
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By Akanksha, Staff Reporter,
The clinical significance of diminished protein Z in plasma is controversial. Studies in mice demonstrated that deficiency of protein Z dramatically increases the prothrombotic tendency of factor V Leiden mutation.
This finding was confirmed by initial results in humans, indicating that thromboembolism in factor V Leiden patients with lowered protein Z level occurs earlier than in patients with normal protein Z levels.
Consequently, the aim of our present study was to find out whether genetic alterations of protein Z were demonstrated in patients with factor V Leiden mutation and early onset of thromboembolic disease.
DNA-sequencing of the protein Z gene was performed in two patients with factor V Leiden mutation, early onset of thromboembolism, and lowered protein Z levels. In both patients, R255H substitution of the protein Z gene was identified.
Subsequently, the R255H substitution was also found in 12 of 132 additional patients. Patients presenting with the R255H substitution in addition to factor V Leiden mutation showed thromboembolic events more frequently than factor V Leiden patients without R255H substitution of the protein Z gene.
In conclusion, R255H substitution of the protein Z gene seems to influence clinical symptoms of thromboembolism in factor V Leiden patients.
- British Journal of Haematology,Volume 128 Issue 2 Page 248 - January 2005
British Journal Of Haematology
Bettina Kemkes-Matthes1, Karl J. Matthes1, Masayoshi Souri2, Shiori Koseki-Kuno2 and Akitada Ichinose
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