Article

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.
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