dc.contributor.author |
Carling, PJ |
en |
dc.contributor.author |
Cree, Lynsey |
en |
dc.contributor.author |
Chinnery, PF |
en |
dc.date.accessioned |
2011-11-16T20:06:25Z |
en |
dc.date.issued |
2011 |
en |
dc.identifier.citation |
Mitochondrion 11(5):686-692 2011 |
en |
dc.identifier.issn |
1567-7249 |
en |
dc.identifier.uri |
http://hdl.handle.net/2292/9099 |
en |
dc.description.abstract |
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. |
en |
dc.language |
EN |
en |
dc.publisher |
Elsevier B.V. |
en |
dc.relation.ispartofseries |
Mitochondrion |
en |
dc.rights |
Items in ResearchSpace are protected by copyright, with all rights reserved, unless otherwise indicated. Previously published items are made available in accordance with the copyright policy of the publisher. Details obtained from
http://www.sherpa.ac.uk/romeo/issn/1567-7249/ |
en |
dc.rights.uri |
https://researchspace.auckland.ac.nz/docs/uoa-docs/rights.htm |
en |
dc.subject |
Genetic bottleneck |
en |
dc.subject |
Inheritance |
en |
dc.subject |
Mitochondrial biogenesis |
en |
dc.subject |
mtDNA replication |
en |
dc.subject |
Copy number |
en |
dc.subject |
Transcription |
en |
dc.subject |
TRANSCRIPTION-FACTOR-A |
en |
dc.subject |
RANDOM GENETIC DRIFT |
en |
dc.subject |
RAGGED-RED FIBERS |
en |
dc.subject |
PRIMORDIAL GERM-CELLS |
en |
dc.subject |
BINDING PROTEIN |
en |
dc.subject |
HETEROPLASMIC MICE |
en |
dc.subject |
MYOCLONUS EPILEPSY |
en |
dc.subject |
MTDNA MAINTENANCE |
en |
dc.subject |
RAPID SEGREGATION |
en |
dc.subject |
STRAND SYNTHESIS |
en |
dc.title |
The implications of mitochondrial DNA copy number regulation during embryogenesis |
en |
dc.type |
Journal Article |
en |
dc.identifier.doi |
10.1016/j.mito.2011.05.004 |
en |
pubs.issue |
5 |
en |
pubs.begin-page |
686 |
en |
pubs.volume |
11 |
en |
dc.rights.holder |
Copyright: 2011 Elsevier B.V. |
en |
dc.identifier.pmid |
21635974 |
en |
pubs.end-page |
692 |
en |
dc.rights.accessrights |
http://purl.org/eprint/accessRights/RestrictedAccess |
en |
pubs.subtype |
Article |
en |
pubs.elements-id |
221927 |
en |
pubs.org-id |
Medical and Health Sciences |
en |
pubs.org-id |
School of Medicine |
en |
pubs.org-id |
Obstetrics and Gynaecology |
en |
dc.identifier.eissn |
1872-8278 |
en |
pubs.record-created-at-source-date |
2011-11-17 |
en |
pubs.dimensions-id |
21635974 |
en |