Scientific Publications

Mitochondrial disorders as windows into an ancient organelle.

Publication TypeJournal Article
AuthorsVafai, SB, and Mootha VK
AbstractMuch 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.
Year of Publication2012
JournalNature
Volume491
Issue7424
Pages374-383
Date Published (YYYY/MM/DD)2012/11/14
ISSN Number0028-0836
DOI10.1038/nature11707
PubMedhttp://www.ncbi.nlm.nih.gov/pubmed/23151580?dopt=Abstract