Editing Mitochondrial DNA (section)

=== Use in disease diagnosis ===

Recently a mutation in mtDNA has been used to help diagnose prostate cancer in patients with negative [[prostate biopsy]].<ref name="pmid20944788">{{Cite journal |vauthors=Reguly B, Jakupciak JP, Parr RL |date=October 2010 |title=3.4 kb mitochondrial genome deletion serves as a surrogate predictive biomarker for prostate cancer in histopathologically benign biopsy cores |journal=Canadian Urological Association Journal |volume=4 |issue=5 |pages=E118–E122 |doi=10.5489/cuaj.932 |pmc=2950771 |pmid=20944788}}</ref><ref name="pmid20084081">{{Cite journal |display-authors=6 |vauthors=Robinson K, Creed J, Reguly B, Powell C, Wittock R, Klein D, Maggrah A, Klotz L, Parr RL, Dakubo GD |date=June 2010 |title=Accurate prediction of repeat prostate biopsy outcomes by a mitochondrial DNA deletion assay |journal=Prostate Cancer and Prostatic Diseases |volume=13 |issue=2 |pages=126–131 |doi=10.1038/pcan.2009.64 |pmid=20084081 |s2cid=25050759}}</ref>
mtDNA alterations can be detected in the bio-fluids of patients with cancer.<ref name="Mair">{{Cite journal |display-authors=6 |vauthors=Mair R, Mouliere F, Smith CG, Chandrananda D, Gale D, Marass F, Tsui DW, Massie CE, Wright AJ, Watts C, Rosenfeld N, Brindle KM |date=January 2019 |title=Measurement of Plasma Cell-Free Mitochondrial Tumor DNA Improves Detection of Glioblastoma in Patient-Derived Orthotopic Xenograft Models |url=https://www.repository.cam.ac.uk/handle/1810/286401 |url-status=live |journal=Cancer Research |volume=79 |issue=1 |pages=220–230 |doi=10.1158/0008-5472.CAN-18-0074 |pmc=6753020 |pmid=30389699 |archive-url=https://web.archive.org/web/20190924104515/https://www.repository.cam.ac.uk/handle/1810/286401 |archive-date=24 September 2019 |access-date=24 September 2019}}</ref> mtDNA is characterized by the high rate of polymorphisms and mutations. Some of these are increasingly recognized as an important cause of human pathology such as oxidative phosphorylation (OXPHOS) disorders, maternally inherited diabetes and deafness (MIDD), Type 2 diabetes mellitus, [[Neurodegenerative disease]], heart failure, and cancer.{{cn|date=November 2024}}