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Rare, pathogenic variants in LRP10 are associated with amyotrophic lateral sclerosis in patients from mainland China.

Authors :
Ni, Jie
Liu, Zhen
Li, Wanzhen
Yuan, Yanchun
Huang, Ling
Hu, Yiting
Liu, Pan
Hou, Xiaorong
Jiao, Bin
Li, Jinchen
Shen, Lu
Jiang, Hong
Tang, Beisha
Wang, Junling
Source :
Neurobiology of Aging. Jan2021, Vol. 97, p145.e17-145.e22. 1p.
Publication Year :
2021

Abstract

Low-density lipoprotein receptor-related protein 10 (LRP10) is associated with a series of neurodegenerative diseases, such as Alzheimer's disease and Parkinson's disease which share genetic risk factors and pathophysiological processes with amyotrophic lateral sclerosis (ALS). To investigate whether LRP10 variants could cause a predisposition to ALS, we screened rare, pathogenic LRP10 variants among a cohort of 584 patients with ALS from mainland China and performed burden analysis using data from a large external database. A total of 7 rare, pathogenic variants in LRP10 , of which one (c.1182A>T, p.R394S) was novel, were identified in 11 unrelated patients. Burden analysis revealed significant associations between ALS and LRP10 at both the gene and single-variant levels (c.1721G>A, p.R574Q; c.1182A>T, p.R394S; and c.1681C>T, p.R561C). Interestingly, patients with sporadic ALS carrying variant c.1721G>A tended to have a bulbar onset, increased phenotype severity, and a worse prognosis. Our findings first provide independent evidence that rare, pathogenic LRP10 variants may be risk factors for ALS and delineate a special phenotype in patients with sporadic ALS carrying variant c.1721G>A. • For the first time, LRP10 variations are described in patients with amyotrophic lateral sclerosis (ALS) from mainland China. • Rare, pathogenic variants in LRP10 may be risk factors for ALS. • Patients with sporadic ALS carrying variant c.1721G>A tend to have a special phenotype. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
01974580
Volume :
97
Database :
Academic Search Index
Journal :
Neurobiology of Aging
Publication Type :
Academic Journal
Accession number :
147524179
Full Text :
https://doi.org/10.1016/j.neurobiolaging.2020.06.013