Analysis of PLA2G6 gene mutation in sporadic early-onset parkinsonism patients from Chinese population

作者：Tian, Jin-yong; Tang, Bei-sha; Shi, Chang-he; Lv, Zhan-yun; Li, Kai; Yu, Ri-li; Shen, Lu; Yan, Xin-xiang; Guo, Ji-feng^*

来源：Neuroscience Letters, 2012, 514(2): 156-158.

DOI：10.1016/j.neulet.2012.02.078

• PLA2G6
• Gene mutation
• Sporadic early-onset parkinsonism

Recent studies have shown that PLA2G6 is a causative gene for PARK14-linked autosomal recessive early-onset complicated dystonia-parkinsonism, early-onset parkinsonism with frontotemporal dementia and autosomal recessive early-onset Parkinsonism without added complicated clinical features. In order to investigate the characteristics of PLA2G6 gene mutations in Chinese sporadic early-onset parkinsonism (FOP) patients, we performed polymerase chain reaction and DNA direct sequencing on a cohort of sporadic EOP patients from Chinese population. In this study, we found a novel heterozygous varient (p.G679V). Bioinformatics demonstrates that p.G679V exhibits highly conserved residues across species, which hints it might be a pathogenic mutation. Our result indicated that PLA2G6 mutations might not be a main cause of Chinese sporadic EOP.

• 出版日期2012-4-18
• 单位中南大学