Article
Somatic mtDNA mutations at intermediate levels of heteroplasmy are a source of functional heterogeneity among primary leukemic cells.
Science advances - 12 Sept 2025
McCastlain Kelly, Welsh Catherine, Ni Yonghui, Ding Liang, Chang Ti-Cheng, Autry Robert J, Sejdiu Besian I, Pan Qingfei, Franco Melissa, Chen Wenan, Wu Huiyun, Gonzalez-Pena Veronica, Schreiner Patrick, Arunachalam Sasi, Joo Joung Hyuck, Brady Samuel, Zhang Jinghui, Gawad Charles, Evans William E, Babu M Madan, Khrapko Konstantin, Yu Jiyang, Wu Gang, Pounds Stanley, Kundu Mondira
Abstract excerpt
Somatic mitochondrial DNA (mtDNA) mutations are frequently observed in tumors, yet their role in pediatric cancers remains poorly understood. The heteroplasmic nature of mtDNA-where mutant and wild-type mtDNA coexist-complicates efforts to define its contribution to disease progression. In this study, bulk whole-genome sequencing of 637 matched tumor-normal samples from the Pediatric Cancer Genome Project...
Read the complete abstract on PubMedTopics
- Humans
- DNA, Mitochondrial
- Mutation
- Leukemia