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

Abstract:

: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 (EOP) 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.

journal_name

Neurosci Lett

journal_title

Neuroscience letters

authors

Tian JY,Tang BS,Shi CH,Lv ZY,Li K,Yu RL,Shen L,Yan XX,Guo JF

doi

10.1016/j.neulet.2012.02.078

subject

Has Abstract

pub_date

2012-04-18 00:00:00

pages

156-8

issue

2

eissn

0304-3940

issn

1872-7972

pii

S0304-3940(12)00304-7

journal_volume

514

pub_type

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