Association of mitochondrial genomic background with risk of Multiple System Atrophy.

ABSTRACT:

Introduction

Multiple system atrophy (MSA) is a rare, sporadic, and progressive neurodegenerative disease which is characterized neuropathologically by alpha-synuclein aggregates in oligodendroglia, and clinically by parkinsonism, ataxia, and autonomic dysfunction. Mitochondrial health influences neurodegeneration and defects in mitochondria, particularly in oxidative phosphorylation, are reported in MSA. Mitochondrial DNA (mtDNA) codes for 13 critical OXPHOS proteins, however no study has investigated if mtDNA variation, in the form of mitochondrial haplogroups, influences MSA risk. Therefore, in this study we investigated the association of mtDNA haplogroups with MSA risk in a case-control manner.

Methods

176 pathologically confirmed MSA cases and 910 neurologically health

SUBMITTER: Valentino RR 

PROVIDER: S-EPMC7769955 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature