Inherited peripheral neuropathies due to mitochondrial disorders.
Mitochondrial disorders (MIDs) are frequently responsible for neuropathies with variable severity. Mitochondrial diseases causing peripheral neuropathies (PNP) may be due to mutations of mitochondrial DNA (mtDNA), as is the case in MERRF and MELAS syndromes, or to mutations of nuclear genes. Secondary abnormalities of mtDNA (such as multiple deletions of muscle mtDNA) may result from mitochondrial disorders due to mutations in nuclear genes involved in mtDNA maintenance. This is the case in several syndromes caused by impaired mtDNA maintenance, such as Sensory Ataxic Neuropathy, Dysarthria and Ophthalmoplegia (SANDO) due to recessive mutations in the POLG gene, which encodes the catalytic subunit of mtDNA polymerase (DNA polymerase gamma), or Mitochondrial Neuro-Gastro-Intestinal Encephalomyopathy (MNGIE), due to recessive mutations in the TYMP gene, which encodes thymidine phosphorylase. The last years have seen a growing list of evidence demonstrating that mitochondrial bioenergetics and dynamics might be dysfunctional in axonal Charcot-Marie-Tooth disease (CMT2), and these mechanisms might present a common link between dissimilar CMT2-causing genes.
Service de neurologie, CHU d'Angers, 4, rue Larrey, 49033 Angers, France; CNRS UMR 6214, 4, rue Larrey, 49033 Angers, France; Inserm UMR 1083, 4, rue Larrey, 49033 Angers, France. Electronic address: JuCassereau@chu-angers.fr.
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Service de neurologie, CHU d'Angers, 4, rue Larrey, 49033 Angers, France.
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Codron
Centre de référence des neuropathies périphériques rares, CHU de Limoges, 2, avenue Martin-Luther-King, 87042 Limoges cedex, France; Service de biochimie et génétique moléculaire, CHU de Limoges, 2, avenue Martin-Luther-King, 87042 Limoges, France; EA6309, faculté de médecine, 2, rue du Dr-Marcland, 87045 Limoges cedex, France.
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Funalot
D001370:Axonal Transport; D002467:Cell Nucleus / Q000235:genetics; D004272:DNA, Mitochondrial / Q000235:genetics; D006801:Humans; D008928:Mitochondria / Q000502:physiology; D028361:Mitochondrial Diseases / Q000150:complications* / Q000235:genetics / Q000378:metabolism; D009154:Mutation; D010523:Peripheral Nervous System Diseases / Q000209:etiology* / Q000378:metabolism / Q000503:physiopathology
D004272:DNA, Mitochondrial
ADN mitochondrial; Atteinte multisystémique; Bioenergetics; Bioénergétique; Charcot-Marie-Tooth disease; Maladie de Charcot-Marie-Tooth; Maladies mitochondriales; Mitochondrial DNA; Mitochondrial disorders; Multisystem disease; Neuropathies périphériques; Peripheral neuropathies; Polymerase gamma; Polymérase gamma