Human mitochondrial DNA: roles of inherited and somatic mutations
By E. Schon, S. Dimauro, M. Hirano. Nature reviews genetics, 2012
722 citations recorded by the source corpus.
Mutations in the human mitochondrial genome are known to cause an array of diverse disorders, most of which are maternally inherited, and all of which are associated with defects in oxidative energy metabolism. It is now emerging that somatic mutations in mitochondrial DNA (mtDNA) are also linked to other complex traits, including neurodegenerative diseases, ageing and cancer. Here we discuss insights into the roles of mtDNA mutations in a wide variety of diseases, highlighting the interesting genetic characteristics of the mitochondrial genome and challenges in studying its contribution to pathogenesis.
Subfields: Clinical Biochemistry, Molecular Biology
View Paper: https://www.semanticscholar.org/paper/9f1e25af6ca444c83ba623ab394a5c63307e611c
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In Clinical Biochemistry
In Molecular Biology
- David M. Sabatini
- Tim Wang
- Walter W. Chen
- M. V. Vander Heiden
- M. Laplante
- Ralph J. Deberardinis
- R. A. Saxton
- Michael N. Hall
Citations in the corpus
- Mitochondrial genome acquisition restores respiratory function and tumorigenic potential of cancer cells without mitochondrial DNA. (2015, background): “Mutations in mtDNA have also been described in cancer, but their contribution to tumor initiation, progression and metastasis is less clear (Brandon et al., 2006; Wallace, 2012; Schon et al., 2012).”
- An essential role of the mitochondrial electron transport chain in cell proliferation is to enable aspartate synthesis (2015, background): “Transmitochondrial cytoplasmic hybrid cells (cybrids) are commonly used to study the mechanisms through which mutations in mitochondrial DNA (mtDNA) impair cellular function (Schon et al., 2012).”