Toggle Main Menu Toggle Search

Open Access padlockePrints

The implications of mitochondrial DNA copy number regulation during embryogenesis

Lookup NU author(s): Pip Carling, Dr Lynsey Cree, Professor Patrick Chinnery


Full text for this publication is not currently held within this repository. Alternative links are provided below where available.


Mutations of mitochondrial DNA (mtDNA) cause a wide array of multisystem disorders, particularly affecting organs with high energy demands. Typically only a proportion of the total mtDNA content is mutated (heteroplasmy), and high percentage levels of mutant mtDNA are associated with a more severe clinical phenotype. MtDNA is inherited maternally and the heteroplasmy level in each one of the offspring is often very different to that found in the mother. The mitochondrial genetic bottleneck hypothesis was first proposed as the explanation for these observations over 20 years ago. Although the precise bottleneck mechanism is still hotly debated, the regulation of cellular mtDNA content is a key issue. Here we review current understanding of the factors regulating the amount of mtDNA within cells and discuss the relevance of these findings to our understanding of the inheritance of mtDNA heteroplasmy. (C) 2011 Elsevier B.V. and Mitochondria Research Society. All rights reserved.

Publication metadata

Author(s): Carling PJ, Cree LM, Chinnery PF

Publication type: Review

Publication status: Published

Journal: Mitochondrion

Year: 2011

Volume: 11

Issue: 5

Pages: 686-692

Print publication date: 26/05/2011

ISSN (print): 1567-7249

ISSN (electronic): 1872-8278



DOI: 10.1016/j.mito.2011.05.004

PubMed id: 21635974


Find at Newcastle University icon    Link to this publication