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.
journal_name
Naturejournal_title
Natureauthors
Vafai SB,Mootha VKdoi
10.1038/nature11707subject
Has Abstractpub_date
2012-11-15 00:00:00pages
374-83issue
7424eissn
0028-0836issn
1476-4687pii
nature11707journal_volume
491pub_type
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