Abstract
An increasing number of reports on mitochondrial DNA coding regions' mutations, especially in mitochondrial DNA- encoded NADH dehydrogenase (ND) subunit genes of the respiratory chain complex I, have been published recently, making it possible to improve the molecular diagnosis of many mitochondrial diseases in children with variable clinical features. This article describes 2 mitochondrial DNA mutations in the ND3 and ND5 genes in patients showing clinical features of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)/Leigh syndrome overlap syndrome and atypical Leigh syndrome. These cases add to the increasing number of reports stating that mitochondrial DNA-encoded protein-coding regions are mutation hot spots in pediatric patients with encephalopathies with variable clinical spectra.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Acidosis, Lactic / genetics
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Acidosis, Lactic / pathology
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Brain / pathology
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Brain Diseases, Metabolic / genetics*
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Brain Diseases, Metabolic / pathology
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Child
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Child, Preschool
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DNA, Mitochondrial / genetics*
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Electron Transport Complex I / genetics*
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Female
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Humans
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Leigh Disease / genetics
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Leigh Disease / pathology
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MELAS Syndrome / genetics
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MELAS Syndrome / pathology
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Magnetic Resonance Imaging
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Male
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Mitochondrial Diseases / genetics*
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Mitochondrial Diseases / pathology
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Mitochondrial Encephalomyopathies / genetics
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Mitochondrial Encephalomyopathies / pathology
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Mitochondrial Proteins / genetics*
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Mutation, Missense
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Sequence Analysis, DNA
Substances
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DNA, Mitochondrial
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Mitochondrial Proteins
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MT-ND5 protein, human
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Electron Transport Complex I
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MT-ND3 protein, human