Mitochondria are ubiquitous in eukaryotic cells and one of their important functions is to provide ATP via oxidative phosphorylation (OXPHOS). The mitochondria also host other biochemical pathways, including -oxidation, Krebs' citric acid cycle and parts of the urea cycle. Thus, the mitochondria play a pivotal role in cellular biochemistry. The relationship of mitochondria to human disease has been identified only recently, but has now become one of the most rapidly expanding areas of human pathology. Mitochondrial disorders may be a consequence of inherited defects of either the nuclear or mitochondrial genomes or, alternatively, may be due to endogenous or exogenous environmental toxins. This article will focus upon abnormalities of mitochondrial DNA (mtDNA) and human disease.
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Feature| June 01 2005
Mitochondrial DNA and disease: What happens when things go wrong
Biochem (Lond) (2005) 27 (3): 24–27.
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Anthony Schapira; Mitochondrial DNA and disease: What happens when things go wrong. Biochem (Lond) 1 June 2005; 27 (3): 24–27. doi: https://doi.org/10.1042/BIO02703024
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