Scientific Publications

The mitochondrial proteome and human disease.

Publication TypeJournal Article
AuthorsCalvo, SE, and Mootha VK
AbstractFor nearly three decades, the sequence of the human mitochondrial genome (mtDNA) has provided a molecular framework for understanding maternally inherited diseases. However, the vast majority of human mitochondrial disorders are caused by nuclear genome defects, which is not surprising since the mtDNA encodes only 13 proteins. Advances in genomics, mass spectrometry, and computation have only recently made it possible to systematically identify the complement of over 1,000 proteins that comprise the mammalian mitochondrial proteome. Here, we review recent progress in characterizing the mitochondrial proteome and highlight insights into its complexity, tissue heterogeneity, evolutionary origins, and biochemical versatility. We then discuss how this proteome is being used to discover the genetic basis of respiratory chain disorders as well as to expand our definition of mitochondrial disease. Finally, we explore future prospects and challenges for using the mitochondrial proteome as a foundation for systems analysis of the organelle.
Year of Publication2010
JournalAnnual review of genomics and human genetics
Volume11
Pages25-44
Date Published (YYYY/MM/DD)2010/09/22
ISSN Number1527-8204
DOI10.1146/annurev-genom-082509-141720
PubMedhttp://www.ncbi.nlm.nih.gov/pubmed/20690818?dopt=Abstract