Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2012 Nov 15;491(7424):374-83.
doi: 10.1038/nature11707.

Mitochondrial disorders as windows into an ancient organelle

Scott B Vafai  1 , Vamsi K Mootha
Affiliations
Review

Mitochondrial disorders as windows into an ancient organelle

Scott B Vafai et al. Nature. .

Abstract

Much of our current knowledge about mitochondria has come from studying patients who have respiratory chain disorders. These disorders comprise a large collection of individually rare syndromes, each presenting in a unique and often devastating way. In recent years, there has been great progress in defining their genetic basis, but we still know little about the cascade of events that gives rise to such diverse pathology. Here, we review these disorders and explore them in the context of a contemporary understanding of mitochondrial evolution, biochemistry and genetics. Fully deciphering their pathogenesis is a challenging next step that will inspire the development of drug treatments for rare and common diseases.

PubMed Disclaimer

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

References

    1. Nat Rev Mol Cell Biol. 2011 Jan;12(1):9-14 - PubMed
    1. J Biol Chem. 1955 Nov;217(1):409-27 - PubMed
    1. J Neurol Sci. 1976 Feb;27(2):217-32 - PubMed
    1. Am J Hum Genet. 2006 Aug;79(2):291-302 - PubMed
    1. BMC Med Genet. 2012 Jan 06;13:3 - PubMed

Publication types