Abstract
Mutations in the cardiac beta -myosin heavy chain gene (MYH7), and other genes encoding cardiac sarcomere proteins may cause familial hypertrophic cardiomyopathy (F-HCM), an autosomal dominant disease, characterized by myocardial hypertrophy. We analysed the MYH7 gene in three generations of a family with one borderline and four clinically verified cases of hypertrophic cardiomyopathy, and identified a mutation in exon 7 changing the 190 arginine residue into a threonine residue. The mutation is located in the ATP-binding region of the myosin head and alters the charge in the F-helix close to the phosphate-binding P-loop. The mutation may thus interfere with the coupling between ATP-hydrolysis and the transition into mechanical energy. In conclusion, the novel Arg190Thr mutation in exon 7 of the MYH7 gene is associated with the development of symptomatic myocardial hypertrophy in adults.
Originalsprog | Engelsk |
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Tidsskrift | Journal of Molecular and Cellular Cardiology |
Vol/bind | 31 |
Udgave nummer | 4 |
Sider (fra-til) | 745-50 |
Antal sider | 6 |
ISSN | 0022-2828 |
DOI | |
Status | Udgivet - apr. 1999 |
Udgivet eksternt | Ja |