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A mitochondrial bioenergetic etiology of disease

2013; American Society for Clinical Investigation; Volume: 123; Issue: 4 Linguagem: Inglês

10.1172/jci61398

1558-8238

Douglas C. Wallace,

ATP Synthase and ATPases Research

The classical Mendelian genetic perspective has failed to adequately explain the biology and genetics of common metabolic and degenerative diseases. This is because these diseases are primarily systemic bioenergetic diseases, and the most important energy genes are located in the cytoplasmic mitochondrial DNA (mtDNA). Therefore, to understand these "complex" diseases, we must investigate their bioenergetic pathophysiology and consider the genetics of the thousands of copies of maternally inherited mtDNA, the more than 1,000 nuclear DNA (nDNA) bioenergetic genes, and the epigenomic and signal transduction systems that coordinate these dispersed elements of the mitochondrial genome.