MitoRS, a method for high throughput, sensitive, and accurate detection of mitochondrial DNA heteroplasmy.

ABSTRACT:

Background

Mitochondrial dysfunction is linked to numerous pathological states, in particular related to metabolism, brain health and ageing. Nuclear encoded gene polymorphisms implicated in mitochondrial functions can be analyzed in the context of classical genome wide association studies. By contrast, mitochondrial DNA (mtDNA) variants are more challenging to identify and analyze for several reasons. First, contrary to the diploid nuclear genome, each cell carries several hundred copies of the circular mitochondrial genome. Mutations can therefore be present in only a subset of the mtDNA molecules, resulting in a heterogeneous pool of mtDNA, a situation referred to as heteroplasmy. Consequently, detection and quantification of variants requires extremely accurate tools, especiall

SUBMITTER: Marquis J 

PROVIDER: S-EPMC5405551 | biostudies-literature | 2017 Apr

REPOSITORIES: biostudies-literature