Corpus ID: 86345362

Disturbances in mitochondrial DNA maintenance in neuromuscular disorders and valproate-induced liver toxicity

  title={Disturbances in mitochondrial DNA maintenance in neuromuscular disorders and valproate-induced liver toxicity},
  author={Tuomas Komulainen},
Mitochondrial DNA depletion and deletions are related to mutations in the nuclear genes responsible for replication and maintenance of mitochondrial DNA (mtDNA). The POLG1 gene encodes the enzyme responsible for replication of mtDNA. A particular feature of the POLG1 mutations is an increased risk of acute liver failure (ALF) upon exposure to sodium valproate (VPA), but the pathomechanism is not resolved. The present work studies the molecular genetic aetiology and clinical phenotypes… Expand
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