Molecular defect of hepatolenticular degeneration and its clinical symptoms

Written by Gulyaeva S.E., Ovchinnikov A.V

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The paper discusses results of molecular genetic testing of 42 patients with neurological symptoms of hepatolenticular degeneration living in Primorsky Krai. Mutations in Gly1267Arg, His1069Gly and DelC3402 of АТР7В gene were found in 71.4% of cases. These were mostly heterozygous ones and detected in emigrants from Ukraine and Belorussia with arythmohyperkinetic form of the disease. They were practically not found in locals. A maximum of АТР7В‑gene mutations fell on a combination of Gly1267Arg and DelC3402. There were no isolated His1069Gly mutations. The authors have not revealed any correlation between the severity of hepatolenticular degeneration and heterozygous carrier of any discovered mutations or their combinations.

Ссылки на авторов:

S.E. Gulyaeva, A.V. Ovchinnikov
Pacific State Medical University (2 Ostryakova Av. Vladivostok 690950 Russian Federation)

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