Genetics

This blog post explores a 2025 Mendelian randomization study investigating the relationship between mitochondrial DNA copy number (mtDNA-CN) and multiple sclerosis progression. While the study found no evidence that mtDNA-CN directly causes MS progression, reverse analysis suggested that worsening MS may lead to reduced mtDNA-CN, pointing to mitochondrial dysfunction as a potential molecular consequence of disease progression. The article highlights how chronic inflammation, oxidative stress, and neuronal energy failure may damage mitochondrial integrity, and discusses the potential of mtDNA-CN as a biomarker that could complement established MS progression markers such as neurofilament light chain and GFAP.