Uncovering Hidden Mitochondrial DNA Mutations: New Research Insights.
Originally Published 2 years ago — by SciTechDaily
A new high-throughput single-cell single-mitochondrial genome sequencing technology called iMiGseq has enabled researchers to uncover previously hidden mutations in mitochondrial DNA (mtDNA) that cause maternally inherited diseases. The technology has also revealed complex patterns of pathogenic mtDNA mutations, including single nucleotide variants and large structural variants, that were undetectable with conventional next-generation sequencing. Additionally, iMiGseq has shown the potential risks of unintended off-target mutations in a mitochondrial genome editing method called mitoTALEN, highlighting the need for more sensitive methods to assess the safety of editing strategies. The iMiGseq method provides a novel means to accurately depict the complete haplotypes of individual mtDNA in single cells, offering an ideal platform for explaining the cause of mitochondrial mutation-related diseases, evaluating the safety of various mtDNA editing strategies, and unraveling the links between mtDNA mutations, aging, and the development of complex diseases.