Mutations in human mitochondrial genes leading to disease syndromes

(a) Muscle functioning, hearing, and vision all require high levels of energy produced by mitochondria. (b) Pedigree showing maternal inheritance with incomplete penetrance of LHON(a) Muscle functioning, hearing, and vision all require high levels of energy produced by mitochondria. (b) Pedigree showing maternal inheritance with incomplete penetrance of LHON

(a) Aminoglycoside- induced Deafness MELAS deafness Myopathy Respiratory M PEhO MELASMILS ~ deficiency yopat y F _ Cardiomyopathy V 125 D loop P Diabetes rRNA Deafness MELAS LH ON , Homo saplens mtDNA 16,569 bp PEO MELAS Typically PEO deleted in LHON Leber hereditary optic neuropathy Encephalogsghgy KSS/PEO Anemia MELAS Mitochondrial encephalomyopathy, y Myopathy lactic acidosis, and stroke-like episodes Deafness LHON MILS Maternally inherited Leigh syndrome AtaXIa LHON/ PEO Progressive external ophthalmoplegia Myoclonus dystonia MERRF Myoclonic epilepsy with ragged MERRF Deafness y, Cardiomyopathy red fibers Cardiopathy - - NARP Neuropathy, ataxia, retinitis pigmentosa MERRF Rim? MYOQREIQSE‘SomfliLaAtzy (b) I lll