Mitochondrial DNA mutations and human disease.
By H. Tuppen, E. Blakely, D. Turnbull, Robert W. Taylor. Biochimica et Biophysica Acta, 2010
659 citations recorded by the source corpus.
Mitochondrial disorders are a group of clinically heterogeneous diseases, commonly defined by a lack of cellular energy due to oxidative phosphorylation (OXPHOS) defects. Since the identification of the first human pathological mitochondrial DNA (mtDNA) mutations in 1988, significant efforts have been spent in cataloguing the vast array of causative genetic defects of these disorders. Currently, more than 250 pathogenic mtDNA mutations have been identified. An ever-increasing number of nuclear DNA mutations are also being reported as the majority of proteins involved in mitochondrial metabolism and maintenance are nuclear-encoded. Understanding the phenotypic diversity and elucidating the molecular mechanisms at the basis of these diseases has however proved challenging. Progress has been hampered by the peculiar features of mitochondrial genetics, an inability to manipulate the mitochondrial genome, and difficulties in obtaining suitable models of disease. In this review, we will first outline the unique features of mitochondrial genetics before detailing the diseases and their genetic causes, focusing specifically on primary mtDNA genetic defects. The functional consequences of mtDNA mutations that have been characterised to date will also be discussed, along with current and potential future diagnostic and therapeutic advances.
Subfields: Clinical Biochemistry, Molecular Biology
View Paper: https://www.semanticscholar.org/paper/b52cea89f7d29e4137fb6e7175963cf0d992f736
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In Molecular Biology
Citations in the corpus
- The Role of Oxidative Stress in Parkinson’s Disease (2013, background): “In aged and PD afflicted brains, high levels of mitochondrial DNA (mtDNA) deletions are found in pigmented neurons of the substantia nigra [192] [193] [194] [195], and ROS-mediated damage can result in mutations in the mitochondrial genome [196] [197] [198].”
- Patterns of Freshwater Bivalve Global Diversity and the State of Phylogenetic Studies on the Unionoida, Sphaeriidae, and Cyrenidae * (2013, background): “The absence of a robust phylogeny of freshwater mussel families hampers study of the origin and maintenance of mitochondrial heteroplasmy, which likely has broader implications than freshwater bivalve phylogeny (e.g., Tuppen et al. 2010).”