Mitochondria, the cell's "powerhouses," generate most of the body's energy. Variations in their genetic material have long been linked to neurological disorders, metabolic syndromes, and cancers. However, most large-scale mitochondrial DNA (mtDNA) studies to date have focused on European populations, leaving a significant gap in genomic data from East Asia.

A research team led by Profs. XU Tao and HE Shunmin from the Institute of Biophysics of the Chinese Academy of Sciences conducted a comprehensive analysis of mitochondrial variants and nuclear mitochondrial DNA segments (NUMTs) from 7,331 individuals by integrating the NyuWa Genome Resource with data from the 1000 Genomes Project (1KGP).

For the first time, the researchers mapped a complete landscape of NUMTs in the Chinese population and established the most comprehensive resource to date of mtDNA variants and NUMTs in Chinese individuals, providing an important reference for genetic studies of mitochondrial-related diseases.

This work was published in Genomics, Proteomics & Bioinformatics on November 5.

The researchers identified 7,216 high-quality mtDNA variants and 1,466 distinct NUMTs. Among these, 88 mtDNA variants and 642 NUMTs were unique to the NyuWa population.

Through genome-wide association analyses, the researchers discovered that 12 mtDNA variants were significantly associated with 199 nuclear DNA (nDNA) variants.

This study provides a valuable reference resource for genetic research on mtDNA-related diseases, particularly in East Asian populations. The previously established comprehensive whole-genome sequencing resource for the Chinese population has laid a solid foundation for this work.

In the future, integrating these datasets will enable more comprehensive investigations of nuclear-mitochondrial genome interactions, complex variant associations, and their roles in disease susceptibility and progression.

Overview of Mitochondrial Data Resources and the Landscape of Mitochondrial Variants and NUMTs (Image by XU Tao's group and HE Shunmin's group)