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Recent Advances in Detecting Mitochondrial DNA Heteroplasmic Variations

State Key Lab of Bioelectronics, School of Biological Science and Medical Engineering, Southeast University, Nanjing 210096, China
Authors to whom correspondence should be addressed.
Molecules 2018, 23(2), 323;
Received: 9 January 2018 / Revised: 27 January 2018 / Accepted: 31 January 2018 / Published: 3 February 2018
(This article belongs to the Special Issue Protein-DNA Interactions: From Biophysics to Genomics)
The co-existence of wild-type and mutated mitochondrial DNA (mtDNA) molecules termed heteroplasmy becomes a research hot point of mitochondria. In this review, we listed several methods of mtDNA heteroplasmy research, including the enrichment of mtDNA and the way of calling heteroplasmic variations. At the present, while calling the novel ultra-low level heteroplasmy, high-throughput sequencing method is dominant while the detection limit of recorded mutations is accurate to 0.01% using the other quantitative approaches. In the future, the studies of mtDNA heteroplasmy may pay more attention to the single-cell level and focus on the linkage of mutations. View Full-Text
Keywords: heteroplasmy; mtDNA; mitochondria; next generation sequencing heteroplasmy; mtDNA; mitochondria; next generation sequencing
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MDPI and ACS Style

Duan, M.; Tu, J.; Lu, Z. Recent Advances in Detecting Mitochondrial DNA Heteroplasmic Variations. Molecules 2018, 23, 323.

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