SYNC错义突变与遗传性帕金森病的关系

Relationship between missense mutation of SYNC and Hereditary Parkinson's disease

对近年来呈常染色体显性遗传的帕金森患者的临床资料进行回顾,编码α-突触核蛋白的基因在发生不同种类型的错义突变后,会发生不同程度的聚集,这可能与呈常染色体显性遗传的帕金森病的发病有密切关系。根据二者之间的关系进而为今后的呈常染色体显性遗传的帕金森病的早期预防、诊断以及诊断后干预提供了新的思路。

The clinical data of Parkinson＇s patients with autosomal dominant inheritance in recent years were reviewed. The genes encoding α-synuclein would undergo different degrees of aggregation after different types of missense mutations, which may be related to the incidence of Parkinson＇s disease with autosomal dominant inheritance. Therefore, the understanding of the relationship between missense mutation of SYNC and Hereditary Parkinson＇s disease could provide a new- idea for the early prevention, diagnosis and post-diagnosis intervention of Parkinson＇s disease with autosomal dominant inheritance.