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J Clin Invest. 2013 Apr;123(4):1405-12. doi: 10.1172/JCI61398. Epub 2013 Apr 1.

A mitochondrial bioenergetic etiology of disease.

Author information

1
Center for Mitochondrial and Epigenomic Medicine, Children's Hospital of Philadelphia, and Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104-4302, USA. wallaced1@email.chop.edu

Abstract

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.

PMID:
23543062
PMCID:
PMC3614529
DOI:
10.1172/JCI61398
[Indexed for MEDLINE]
Free PMC Article
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