Mitochondrial DNA depletion syndromes--many genes, common mechanisms.

@article{Suomalainen2010MitochondrialDD,
  title={Mitochondrial DNA depletion syndromes--many genes, common mechanisms.},
  author={Anu Suomalainen and Pirjo Isohanni},
  journal={Neuromuscular disorders : NMD},
  year={2010},
  volume={20 7},
  pages={429-37}
}
Mitochondrial DNA depletion syndrome has become an important cause of inherited metabolic disorders, especially in children, but also in adults. The manifestations vary from tissue-specific mtDNA depletion to wide-spread multisystemic disorders. Nine genes are known to underlie this group of disorders, and many disease genes are still unidentified. However, the disease mechanisms seem to be intimately associated with mtDNA replication and nucleotide pool regulation. We review here the current… CONTINUE READING