Format

Send to

Choose Destination
See comment in PubMed Commons below
Diabetes Metab. 2010 Apr;36(2):97-107. doi: 10.1016/j.diabet.2009.11.002. Epub 2010 Jan 21.

Genetic bases of mitochondrial respiratory chain disorders.

Author information

1
Inserm U781, hôpital Necker-Enfants Malades, université Paris Descartes, 149, rue de Sèvres, 75015 Paris, France. agnes.Rotig@inserm.fr

Abstract

Oxidative phosphorylation - ATP synthesis by the oxygen-consuming respiratory chain (RC) - supplies most organs and tissues with a readily usable energy source, and is already fully functioning at birth. This means that, in theory, RC deficiency can give rise to any symptom in any organ or tissue at any age and with any mode of inheritance, due to the two-fold genetic origin of RC components (nuclear DNA and mitochondrial DNA). It has long been erroneously believed that RC disorders originate from mutations of mtDNA as, for some time, only mutations or deletions of mtDNA could be identified. However, the number of disease-causing mutations in nuclear genes is now steadily growing. These genes not only encode the various subunits of each complex, but also the ancillary proteins involved in the different stages of holoenzyme biogenesis, including transcription, translation, chaperoning, addition of prosthetic groups and assembly of proteins, as well as the various enzymes involved in mtDNA metabolism.

PMID:
20093061
DOI:
10.1016/j.diabet.2009.11.002
[Indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Masson (France)
    Loading ...
    Support Center