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Endangered species: mitochondrial DNA loss as a mechanism of human disease
Alan Herrera1,Iraselia Garcia1,Norma Gaytan1,Edith Jones1,Alicia Maldonado2,Robert Gilkerson1,2,*
1
Departments of Biology, University of Texas-Pan American, 1201 West University Drive, Edinburg, TX 78539 USA
2
Clinical Laboratory Sciences, University of Texas-Pan American, 1201 West University Drive, Edinburg, TX 78539 USA
DOI: 10.2741/S428 Volume 7 Issue 1, pp.109-124
Published: 01 June 2015
(This article belongs to the Special Issue Mitochondrial bioenergetics in human health)
*Corresponding Author(s):  
Robert Gilkerson
E-mail:  
gilkersonrw@utpa.edu
Abstract

Human mitochondrial DNA (mtDNA) is a small maternally inherited DNA, typically present in hundreds of copies in a single human cell. Thus, despite its small size, the mitochondrial genome plays a crucial role in the metabolic homeostasis of the cell. Our understanding of mtDNA genotype-phenotype relationships is derived largely from studies of the classical mitochondrial neuromuscular diseases, in which mutations of mtDNA lead to compromised mitochondrial bioenergetic function, with devastating pathological consequences. Emerging research suggests that loss, rather than mutation, of mtDNA plays a major role across a range of prevalent human diseases, including diabetes mellitus, cardiovascular disease, and aging. Here, we examine the ‘rules’ of mitochondrial genetics and function, the clinical settings in which loss of mtDNA is an emerging pathogenic mechanism, and explore mtDNA damage and its consequences for the organellar network and cell at large. As extranuclear genetic material arrayed throughout the cell to support metabolism, mtDNA is increasingly implicated in a host of disease conditions, opening a range of exciting questions regarding mtDNA and its role in cellular homeostasis.

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Alan Herrera, Iraselia Garcia, Norma Gaytan, Edith Jones, Alicia Maldonado, Robert Gilkerson. Endangered species: mitochondrial DNA loss as a mechanism of human disease. Frontiers in Bioscience-Scholar. 2015. 7(1); 109-124.