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

• Published in: FEBS letters Vol. 595; no. 8; pp. 976 - 1002
• Main Authors: Filograna, Roberta, Mennuni, Mara, Alsina, David, Larsson, Nils‐Göran
• Format: Journal Article
• Language: English
• Published: England John Wiley and Sons Inc 01.04.2021
• Subjects: ageing; Alzheimer’s disease; cancer; evolution; genome; human diseases; humans; mitochondria; mitochondrial diseases; mitochondrial DNA; mtDNA; mtDNA copy number; neurodegenerative disorders; oxidative phosphorylation; Parkinson’s disease; proteome; Review; TFAM; therapeutics; ageing; mitochondrial diseases; Alzheimer’s disease; mtDNA; mitochondria; TFAM; cancer; neurodegenerative disorders; mtDNA copy number; Parkinson’s disease

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 1...