Medical Genetics The first human disease that was associated with a mutation in mitochondrial dna is called leber's Hereditary Optic Neuropathy, or LHON
Medical Genetics The first human disease that was associated with a mutation in mitochondrial DNA is called Leber's Hereditary Optic Neuropathy, or LHON
Medical Genetics mtDNA Point Multiple deletions Several types of mutations Aging mtdna defect Cardiomyopath Myositis Deafness Inclusion body Diabetes Leber's optic COX- muscle External ne uro pa thy fibers ophthalmo plegia Leigh's MNGIE (PEO syndrome PEO Sporadic MELAS Wolfram Maternal MERRF Dominant NARP/MILS Depletion of R ecessive mtDNA Leigh's Single deletion Infantile Myopathy or duplication myopathy fatal Rhabdomyolysis Ataxia, FLater-onset' Sensory Leukodystrophy AZT treatment neuropathy Intense SDH staining Dia betes: Systemic disorders of a muscle fiber with Maternal mitochondrial inheritance Kearns-Sayre proliferation Pearson's PEO: Sporadic
Medical Genetics Intense SDH staining of a muscle fiber with mitochondrial proliferation mtDNA Point mutations Cardiomyopath y Leber's optic neuropathy Leigh's syndrome MELAS MERRF NARP/MILS Single deletion or duplication Ataxia, Leukodystrophy Diabetes: Maternal inheritance Kearns-Sayre Pearson's PEO: Sporadic Multiple deletions Aging Myositis Inclusion body COX- muscle fibers MNGIE PEO Wolfram Depletion of mtDNA Infantile myopathy Fatal "Later-onset" AZT treatment Several types of mtDNA defect Deafness Diabetes External ophthalmoplegia (PEO) Sporadic Maternal Dominant Recessive Leigh's Myopathy Rhabdomyolysis Sensory neuropathy Systemic disorders