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

Marcelo Ribeiro da Silva Briones João H C Campos Renata Carmona Ferreira Lisa Schneper Ilda M Santos Fernando M Antonelinull nullJames R Broach

Published in: Muscle & nerve (2024)

Our study shows that mitogenome single nucleotide variants (SNVs) are associated with ALS and suggests that these SNVs could be included in routine genetic testing for ALS and that mitochondrial replacement therapy has the potential to serve as a basis for ALS treatment.

Keyphrases

amyotrophic lateral sclerosis
replacement therapy
copy number
mitochondrial dna
oxidative stress
smoking cessation
genome wide
gene expression
combination therapy