Mitochondrial encephalomyopathies: Clinical and molecular analysis |
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Authors: | Eric A Schon Michio Hirano Salvatore DiMauro |
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Institution: | (1) Department of Neurology, Columbia University College of Physicians and Surgeons, 10032 New York, NY;(2) Department of Genetics and Development, Columbia University College of Physicians and Surgeons, 10032 New York, NY |
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Abstract: | The classification of mitochondrial encephalomyopathies relied upon clinical, biochemical, and histological features until the discovery of mitochondrial DNA defects in 1988. Since then, an outburst of molecular genetic information has aided our understanding of the pathogenesis and the classification of these heterogeneous disorders. Novel concepts of maternal inheritance, mitochondrial DNA (mtDNA) heteroplasmy, tissue distribution, and threshold have explained many of the clinical characteristics. The discovery of point mutations, large-scale mtDNA deletions, duplications, and autosomally inherited disorders with multiple mtDNA deletions have revealed new genetic phenomena. Despite our rapidly expanding understanding of the molecular genetic defects, many questions remain to be explored to fill the gap in our knowledge of the relationship between genotype and clinical phenotype. |
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Keywords: | Brain KSS Leigh LHON maternal inheritance MELAS MERRF mitochondrial DNA muscle NARP oxidative phosphorylation PEO respiratory chain |
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