Maternal age effect and severe germ-line bottleneck in the inheritance of human mitochondrial DNA.

ABSTRACT: The manifestation of mitochondrial DNA (mtDNA) diseases depends on the frequency of heteroplasmy (the presence of several alleles in an individual), yet its transmission across generations cannot be readily predicted owing to a lack of data on the size of the mtDNA bottleneck during oogenesis. For deleterious heteroplasmies, a severe bottleneck may abruptly transform a benign (low) frequency in a mother into a disease-causing (high) frequency in her child. Here we present a high-resolution study of heteroplasmy transmission conducted on blood and buccal mtDNA of 39 healthy mother-child pairs of European ancestry (a total of 156 samples, each sequenced at ∼20,000× per site). On average, each individual carried one heteroplasmy, and one in eight individuals carried a disease-associated heter

SUBMITTER: Rebolledo-Jaramillo B 

PROVIDER: S-EPMC4217420 | biostudies-literature | 2014 Oct

REPOSITORIES: biostudies-literature