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Biochim Biophys Acta. 2014 Aug;1842(8):1198-207. doi: 10.1016/j.bbadis.2013.11.012. Epub 2013 Nov 16.

Mitochondrial genome changes and neurodegenerative diseases.

Author information

1
Department of Neurology, University of Miami Miller School of Medicine, Miami, FL 33136, USA; Department of Cell Biology, University of Miami Miller School of Medicine, Miami, FL 33136, USA.
2
Department of Neurology, University of Miami Miller School of Medicine, Miami, FL 33136, USA; Neuroscience Graduate Program, University of Miami Miller School of Medicine, Miami, FL 33136, USA; Department of Cell Biology, University of Miami Miller School of Medicine, Miami, FL 33136, USA. Electronic address: cmoraes@med.miami.edu.

Abstract

Mitochondria are essential organelles within the cell where most of the energy production occurs by the oxidative phosphorylation system (OXPHOS). Critical components of the OXPHOS are encoded by the mitochondrial DNA (mtDNA) and therefore, mutations involving this genome can be deleterious to the cell. Post-mitotic tissues, such as muscle and brain, are most sensitive to mtDNA changes, due to their high energy requirements and non-proliferative status. It has been proposed that mtDNA biological features and location make it vulnerable to mutations, which accumulate over time. However, although the role of mtDNA damage has been conclusively connected to neuronal impairment in mitochondrial diseases, its role in age-related neurodegenerative diseases remains speculative. Here we review the pathophysiology of mtDNA mutations leading to neurodegeneration and discuss the insights obtained by studying mouse models of mtDNA dysfunction.

KEYWORDS:

Encephalopathy; Mitochondrion; mtDNA

PMID:
24252612
PMCID:
PMC4283582
DOI:
10.1016/j.bbadis.2013.11.012
[Indexed for MEDLINE]
Free PMC Article

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