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Mitochondrial genome variants associated with amyotrophic lateral sclerosis and their haplogroup distribution.

Muscle & nerve - 1 Oct 2024

Briones Marcelo R S, Campos João H, Ferreira Renata C, Schneper Lisa, Santos Ilda M, Antoneli Fernando M, Broach James R

Abstract excerpt

INTRODUCTION/AIMS: Amyotrophic lateral sclerosis (ALS) may be familial or sporadic, and twin studies have revealed that even sporadic forms have a significant genetic component. Variants in 55 nuclear genes have been associated with ALS and although mitochondrial dysfunction is observed in ALS, variants in mitochondrial genomes (mitogenomes) have not yet been tested for association with ALS. The aim of this study...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39126144
DOI: 10.1002/mus.28230
PMCID: PMC11474277

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