Literature ReviewOpen accessIn the keywordsPotential Therapies for Mitochondrial Diseases Caused by mtDNA MutationsAnastasia V. Poznyak, Nikolay A. Orekhov, Dmitry Felixovich Beloyartsev et al.Mitochondrial diseases, caused by mutations in mitochondrial DNA (mtDNA), present significant genetic and clinical complexities that challenge accurate diagnosis and treatment. This review examines the critical molecular mechanisms underlying these disorders, particularly the role of heteroplasmy, where mixtures of mutated and normal mtDNA influence disease severity, and the nuclear-mitochondrial DNA interactions that compound diagnostic and therapeutic challenges. The threshold effect, … …American Journal of Biochemistry and Biotechnology, Vol. 21, Issue 4 · 15 Feb 2026 · 1,735 accessesView PDFCite