A high-throughput single-cell single-mitochondrial genome sequencing technology known as iMiGseq has provided new insights into mutations of mitochondrial DNA (mtDNA) and offers a platform for assessing mtDNA editing strategies and genetic diagnosis of embryos prior to their implantation. The dev
A human blastocyst-like synthetic embryo called blastoid showing the presence of an enveloping layer of extra-embryonic cells, a blastocoel-like cavity, epiblast cells and hypoblast cells . iMiGSeq was used to sequence mtDNA in a single blastoid to model the dynamics of mtDNA mutations during human embryogenesis. Credit: © 2023 KAUST; Mo Li
An international team of researchers, led by KAUST stem cell biologist Mo Li, has now quantitatively depicted the genetic maps of mtDNA in single human oocytes and blastoids .This has revealed molecular features of rare mtDNA mutations that cause maternally inherited diseases. “Our new iMiGseq method is significant because it enables complete sequencing of individual mtDNA in single cells, allowing for unbiased, high-throughput base-resolution analysis of full-length mtDNA,” says Bi. iMiGseq resolves several key questions in the field.
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