| Autor: |
Oldenburg, J., Ananyeva, N. M., Saenko, E. L. |
| Předmět: |
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| Zdroj: |
Haemophilia; Oct2004 Supplement 4, Vol. 10, p133-139, 7p |
| Abstrakt: |
Technologies in molecular biology have greatly advanced the knowledge regarding the origin of haemophilia A and the physiology of the factor VIII (FVIII) protein. A variety of different mutations in the FVIII gene have been identified and their effects on the FVIII protein described. It has been shown that the frequency of haemophilia A is due to a high mutation rate predominantly in male germ cells. A significant proportion is originatingde novoin early embryogenesis from somatic mutations, a finding that has implications for genetic counselling. The life-cycle of the FVIII protein and its structure-function relationships are continuously clarified. Most recently it has been shown that FVIII clearance from the circulation is mediated by the low-density lipoprotein receptor-related protein (LRP) and cell-surface heparan sulphate proteoglycans (HSPGs). These findings raise hope for novel recombinant FVIII molecules with prolonged half-life that may improve therapies for haemophlia A. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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