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Rab10 Phosphorylation Detection by LRRK2 Activity Using SDS-PAGE with a Phosphate-binding Tag
Published on: December 14, 2017
LRP10 Mutations May Correlate with Sporadic Parkinson's Disease in China
Quanzhen Zhao1, Pingping Ning1, Xinglong Yang2
1Department of Neurology, West China Hospital, Sichuan University, Chengdu, 610041, Sichuan Province, People's Republic of China.
Abstract:
LDL receptor-related protein (LRP) 10 was recently identified as a Parkinson's disease gene through genome-wide linkage and sequencing analysis, but its role in Parkinson's disease in various populations is still unclear. The aim of this study was to determine the frequency and spectrum of LRP10 mutations in a cohort of Parkinson's disease patients from mainland China. All LRP10 exons and their flanking intron regions were screened by direct sequencing in 567 unrelated Parkinson's disease patients and 600 unrelated controls. We detected 29 exonic or splicing variants in 79 patients with Parkinson's disease. Five variants (c.A181C:p.I61L, c.C652T:p.Q218X, c.C833T:p.T278I, c.T1592G:p.I531S, c.T1697C:p.L566P) were predicted to be disease-causing or damaging by multiple in silico tools. Our study provides genetic evidence that LRP10 defects may correlate with sporadic Parkinson's disease.
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