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帕金森病是常见的神经系统变性病,近年来遗传机制已成为PD发病机制研究领域的热点,而PINK1基因亦被确定为导致常染色体隐性遗传PD的致病基因之一。PINK1基因的突变类型多种多样,其分布亦较为广泛,但突变频率在不同种族中变化很大。PINK1基因突变导致的PD患者的临床表现不仅与经典PD患者、DJ-1及parkin基因突变患者的临床表现存在很多相似之处,亦有其自身的发病特点。PINK1蛋白功能障碍导致PD的致病机制目前尚未明确,可能是通过线粒体功能异常,氧化应激和调节细胞凋亡所介导的。
Parkinson’s disease is a common degenerative disease of the nervous system. In recent years, the genetic mechanism has become a hot spot in the research of PD pathogenesis. PINK1 gene has also been identified as one of the causative genes causing autosomal recessive PD. PINK1 gene mutations in a variety of types, its distribution is also more extensive, but the mutation frequency varies greatly in different races. The clinical manifestations of PD patients caused by PINK1 gene mutation not only have many similarities with the clinical manifestations of patients with classical PD, DJ-1 and parkin mutations, but also have their own characteristics. The pathogenesis of PD caused by PINK1 protein dysfunction is not yet clear, which may be mediated by mitochondrial dysfunction, oxidative stress and regulating apoptosis.