Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders (original) (raw)

This study investigates the prevalence of rare mitochondrial DNA (mtDNA) mutations in a cohort of 743 patients suspected of having mitochondrial disorders. The research identifies 7.4% of deleterious mutations and 22.4% of novel putative mutations, with a notable distinction between pathogenic heteroplasmic (4.6%) and homoplasmic (2.8%) mutations. Symptoms tend to appear early in patients with deleterious mutations, particularly those involving protein-coding genes, while late-onset conditions are linked to tRNA gene mutations. The findings underscore the importance of comprehensive mtDNA analysis in diagnosing mitochondrial diseases, highlighting the prevalence of rare mutations that traditional screening methods may overlook.