Neurobiology of aging · 2010
Mutational analysis of parkin and PINK1 in multiple system atrophy.
СтатьяResearch Support, N.I.H., IntramuralПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод пока не подготовлен
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Brooks Janet A, Houlden Henry, Melchers Anna, Islam Ansha J, Ding Jinhui, Li Abi, Paudel Reema, Revesz Tamas, Holton Janice L, Wood Nick, Lees Andrew, Singleton Andrew B, Scholz Sonja W
Аннотация
Multiple system atrophy (MSA) and Parkinson's disease (PD) are progressive neurodegenerative disorders with overlapping clinical, biochemical and genetic features. To test the hypothesis that the PD genes parkin and PINK1 also play a role in the pathogenesis of MSA, we performed a mutational screening study involving 87 pathologically proven MSA cases. In parkin we identified eight sequence variants and four heterozygous deletions and in PINK1 we identified nine variants of which two silent mutations have not been previously reported (p.Gly189Gly and p.Arg337Arg). The frequencies of the observed variants were not significantly different from previously published control data and none of the possibly pathogenic variants were found in a homozygous state. Our results indicate that genetic variants at the parkin and PINK1 loci do not play a critical role in the pathogenesis of MSA.