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Systems analysis of mitochondrial pathogenesis (235.3)
Author(s) -
Mootha Vamsi
Publication year - 2014
Publication title -
the faseb journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.709
H-Index - 277
eISSN - 1530-6860
pISSN - 0892-6638
DOI - 10.1096/fasebj.28.1_supplement.235.3
Subject(s) - pathogenesis , mitochondrion , biology , organelle , mitochondrial dna , computational biology , genetics , bioinformatics , gene , immunology
Mitochondria lie at the heart of cellular metabolism and signaling. Recent genetic studies indicate that the organelle plays crucial roles both in rare, inborn errors of metabolism, as well as in some of the most common, age‐associated degenerative diseases. At present how lesions within mitochondria give rise to pathogenesis is not clear. In this talk I will present our recent work that combines human genetics with large‐scale genomic profiling to better understand mitochondrial pathogenesis. The results provide insight into new therapeutic targets for rare and common diseases.