IMR Press / FBS / Volume 7 / Issue 1 / DOI: 10.2741/S428

Frontiers in Bioscience-Scholar (FBS) is published by IMR Press from Volume 13 Issue 1 (2021). Previous articles were published by another publisher on a subscription basis, and they are hosted by IMR Press on imrpress.com as a courtesy and upon agreement with Frontiers in Bioscience.

Open Access Article
Endangered species: mitochondrial DNA loss as a mechanism of human disease
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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

*Author to whom correspondence should be addressed.

Academic Editor: Robert William Gilkerson

Front. Biosci. (Schol Ed) 2015, 7(1), 109–124; https://doi.org/10.2741/S428
Published: 1 June 2015
(This article belongs to the Special Issue Mitochondrial bioenergetics in human health)
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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