Mitochondrial cytopathies: genetic, biochemical and clinical features. Diagnosis and management

Bartłomiej Kisiel, Łukasz Małek

Summary
Mitochondrial cytopathies represent a heterogeneous group of multi-system disorders caused by either mitochondrial or nuclear mutations. These mutations lead to defects of energy metabolism. Hence, mitochondrial cytopathies preferentially affect tissues and organs highly dependent on oxidative metabolism, such as skeletal muscles and the nervous system. So far, over 200 different mutations in mtDNA causing mitochondrial disorders have been described, but it is believed that more than 90% of mitochondrial cytopathies are caused by mutations in nuclear genes, of which only a few mutations are known. Diagnostic investigations should consist of the measurement of lactate and pyruvate concentrations in serum and CSF, neuroradiological examinations (preferentially MRI), muscle biopsy (to reveal the presence of ragged-red fibres and to perform staining for cytochrome-c oxydase and succinate dehydrogenase) and genetic analysis. So far, treatments are solely symptomatic and, moreover, relatively ineffective.

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