Wang Peng, Guo Yi, Song Chengyuan, Liu Yiming, Deng Hao
Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, China.
Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, China; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China; Information Security and Big Data Research Institute, Central South University, Changsha, China.
Neurosci Lett. 2018 May 29;676:98-102. doi: 10.1016/j.neulet.2018.04.020. Epub 2018 Apr 12.
Parkinson's disease (PD) features selective loss of dopaminergic neurons of the substantia nigra pars compacta accompanied by the accumulation and aggregation of alpha-synuclein in Lewy bodies. PTEN induced putative kinase 1 gene (PINK1) mutations are the second most common genetic cause of autosomal recessive early-onset Parkinson's disease (EOPD). A single nucleotide deletion in PINK1 exon 8 (c.1557delG) was identified in a consanguineous Chinese family with EOPD. The homozygous deletion was co-segregated with disease in the family and resulted in a frameshift after codon 520 with a premature termination at codon 522 (p.K520RfsX3). These findings have significant implications on genetic counseling for the family and may be helpful in considering potential pathogenesis-targeted and disease-modifying strategies which should further improve patient quality of life.
帕金森病（PD）的特征是黑质致密部多巴胺能神经元选择性丧失，同时伴有α-突触核蛋白在路易小体中的积累和聚集。PTEN诱导的假定激酶1基因（PINK1）突变是常染色体隐性早发性帕金森病（EOPD）的第二大常见遗传病因。在一个患有EOPD的近亲中国家庭中，发现PINK1外显子8存在单核苷酸缺失（c.1557delG）。该纯合缺失在家族中与疾病共分离，导致520密码子后移码，522密码子提前终止（p.K520RfsX3）。这些发现对该家族的遗传咨询具有重要意义，可能有助于考虑潜在的针对发病机制和改善病情的策略，从而进一步提高患者的生活质量。
