MITOCHONDRIAL DNA MUTATIONS IN HUMAN DISEASE
By Robert W. Taylor, D. Turnbull. Nature reviews genetics, 2005
2,091 citations recorded by the source corpus.
The human mitochondrial genome is extremely small compared with the nuclear genome, and mitochondrial genetics presents unique clinical and experimental challenges. Despite the diminutive size of the mitochondrial genome, mitochondrial DNA (mtDNA) mutations are an important cause of inherited disease. Recent years have witnessed considerable progress in understanding basic mitochondrial genetics and the relationship between inherited mutations and disease phenotypes, and in identifying acquired mtDNA mutations in both ageing and cancer. However, many challenges remain, including the prevention and treatment of these diseases. This review explores the advances that have been made and the areas in which future progress is likely.
Subfields: Clinical Biochemistry, Molecular Biology
View Paper: https://www.semanticscholar.org/paper/c7355e640e83fa8c334989eff5e8d413d5eae3f3
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In Clinical Biochemistry
In Molecular Biology
- D. C. Chan
- John S. Mattick
- Marcel E. Dinger
- Hsiuchen Chen
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- A. Chomyn
- Thomas A. Prolla
- Yun E. Wang
Citations in the corpus
- Mitochondrial fusion is required for mtDNA stability in skeletal muscle and tolerance of mtDNA mutations (2010, positive): “…this characteristic blue histological pattern is often found in cases of respiratory dysfunction due to mtDNA defects (DiMauro and Schon, 2003; Taylor and Turnbull, 2005), because SDH activity is encoded solely by the nuclear genome, whereas COX activity is dependent on the mitochondrial…”
- Glycolysis inhibition for anticancer treatment (2006, neutral): “Subsequent studies revealed that mitochondrial DNA (mtDNA) has high rates of mutations in cancer cells (for a review, see Carew and Huang, 2002; Singh, 2004; Taylor and Turnbull, 2005).”
- Mitochondrial dysfunction in cell senescence and aging (2022, positive): “mtDNA mutations or deletions causing mtDNA damage have been implicated in several mitochondrial diseases (51, 52).”
- Mitochondrial function as a therapeutic target in heart failure (2016, neutral): “The extent of heteroplasmy in mutated mtDNA influences the susceptibility to inherited mitochondrial disease 42 .”
- The human mitochondrial transcriptome (2011, positive): “Mitochondrial mutations can result in defective oxidative phosphorylation and energy metabolism and may affect numerous downstream pathological effects, such as changes in apoptosis and DNA repair (Taylor and Turnbull , 2005).”