Mitochondrial DNA (mtDNA) is a compact, double-stranded circular genome of 16,569 bp with a cytosine-rich light (L) chain and a guanine-rich heavy (H) chain. Mitochondria play a very important role in important cellular functions. In addition to producing over 90% of the energy required by a cell, mitochondria also generate reactive oxygen species (ROS) and participate in apoptosis and other important cellular functions. The mutant mtDNA and the wild type may co-exist as heteroplasmy, and cause human disease, including cancer, heart disease, diabetes, Alzheimer's disease, Parkinson's disease and hypertension. Because there is considerable clinical variability between mitochondrial disorders and many patients who exhibit phenotypes that overlap diseases, often diagnosis may only be confirmed by identification of a pathogenic mtDNA variant through molecular genetic testing of DNA extracted from a blood sample. Mitochondrial DNA sequencing is a useful tool for researchers to study human diseases, and be also used in population genetics and biodiversity assessments.
learn more: https://www.cd-genomics.com/mitochondrial-dna-mtdna-sequencing.html |
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