Publication Date:
2012-11-16
Description:
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.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Vafai, Scott B -- Mootha, Vamsi K -- England -- Nature. 2012 Nov 15;491(7424):374-83. doi: 10.1038/nature11707.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Molecular Biology, Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/23151580" target="_blank"〉PubMed〈/a〉
Keywords:
Biological Evolution
;
Electron Transport/physiology
;
Humans
;
Mitochondria/*genetics/*metabolism/pathology
;
Mitochondrial Diseases/*genetics/*pathology
Print ISSN:
0028-0836
Electronic ISSN:
1476-4687
Topics:
Biology
,
Chemistry and Pharmacology
,
Medicine
,
Natural Sciences in General
,
Physics
Permalink
