Mitochondrial DNA copy number in human disease: the more the better?

Most of the genetic information has been lost or transferred to the nucleus during the evolution of mitochondria. Nevertheless, mitochondria have retained their own genome that is essential for oxidative phosphorylation (OXPHOS). In mammals, a gene-dense circular mitochondrial DNA (mtDNA) of about 16.5 kb encodes 13 proteins, which constitute only 1% of the mitochondrial proteome. Mammalian mtDNA is present in thousands of copies per cell and mutations often affect only a fraction of them. Most pathogenic human mtDNA mutations are recessive and only cause OXPHOS defects if present above a certain critical threshold. However, emerging evidence strongly suggests that the proportion of mutated mtDNA copies is not…

• C
  Cancerfonden

  Award: 2018.602
• KO
  Knut och Alice Wallenbergs Stiftelse

  Award: KAW 2016.0050
• V
  Vetenskapsrådet

  Award: 2015.00418
• NN
  Novo Nordisk Fonden
• HE
  H2020 European Research Council

  Award: Advanced Grant 2016‐741366