Mitochondrial DNA deletion mutations increase exponentially with age in human skeletal muscle.

ABSTRACT:

Background

Mitochondrial DNA (mtDNA) deletion mutations lead to electron transport chain-deficient cells and age-induced cell loss in multiple tissues and mammalian species. Accurate quantitation of somatic mtDNA deletion mutations could serve as an index of age-induced cell loss. Quantitation of mtDNA deletion molecules is confounded by their low abundance in tissue homogenates, the diversity of deletion breakpoints, stochastic accumulation in single cells, and mosaic distribution between cells.

Aims

Translate a pre-clinical assay to quantitate mtDNA deletions for use in human DNA samples, with technical and biological validation, and test this assay on human subjects of different ages.

Methods

We developed and validated a high-throughput droplet digital PCR assay th

SUBMITTER: Herbst A 

PROVIDER: S-EPMC7985047 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature