2.50
Hdl Handle:
http://hdl.handle.net/10547/250976
Title:
Transmission of mitochondrial DNA following assisted reproduction and nuclear transfer
Authors:
Spikings, Emma ( 0000-0001-8387-2098 ) ; Alderson, Jon; St John, Justin C.
Abstract:
Mitochondria are the organelles responsible for producing the majority of a cell's ATP and also play an essential role in gamete maturation and embryo development. ATP production within the mitochondria is dependent on proteins encoded by both the nuclear and the mitochondrial genomes, therefore co-ordination between the two genomes is vital for cell survival. To assist with this co-ordination, cells normally contain only one type of mitochondrial DNA (mtDNA) termed homoplasmy. Occasionally, however, two or more types of mtDNA are present termed heteroplasmy. This can result from a combination of mutant and wild-type mtDNA molecules or from a combination of wild-type mtDNA variants. As heteroplasmy can result in mitochondrial disease, various mechanisms exist in the natural fertilization process to ensure the maternal-only transmission of mtDNA and the maintenance of homoplasmy in future generations. However, there is now an increasing use of invasive oocyte reconstruction protocols, which tend to bypass mechanisms for the maintenance of homoplasmy, potentially resulting in the transmission of either form of mtDNA heteroplasmy. Indeed, heteroplasmy caused by combinations of wild-type variants has been reported following cytoplasmic transfer (CT) in the human and following nuclear transfer (NT) in various animal species. Other techniques, such as germinal vesicle transfer and pronuclei transfer, have been proposed as methods of preventing transmission of mitochondrial diseases to future generations. However, resulting embryos and offspring may contain mtDNA heteroplasmy, which itself could result in mitochondrial disease. It is therefore essential that uniparental transmission of mtDNA is ensured before these techniques are used therapeutically.
Affiliation:
University of Birmingham
Citation:
Spikings, E.C., Alderson, J., St. John, J.C. (2006) 'Transmission of mitochondrial DNA following assisted reproduction and nuclear transfer', Human Reproduction Update 12 (4)pp.401-15.
Publisher:
Oxford University Press
Journal:
Human reproduction update
Issue Date:
Jun-2006
URI:
http://hdl.handle.net/10547/250976
DOI:
10.1093/humupd/dml011
PubMed ID:
16581809
Additional Links:
http://www.ncbi.nlm.nih.gov/pubmed/16581809; http://humupd.oxfordjournals.org/content/12/4/401.long
Type:
Article
Language:
en
Description:
Review of the article
ISSN:
1355-4786
Appears in Collections:
Cell and Cryobiology Research Group

Full metadata record

DC FieldValue Language
dc.contributor.authorSpikings, Emmaen_GB
dc.contributor.authorAlderson, Jonen_GB
dc.contributor.authorSt John, Justin C.en_GB
dc.date.accessioned2012-11-05T12:57:01Zen
dc.date.available2012-11-05T12:57:01Zen
dc.date.issued2006-06en
dc.identifier.citationSpikings, E.C., Alderson, J., St. John, J.C. (2006) 'Transmission of mitochondrial DNA following assisted reproduction and nuclear transfer', Human Reproduction Update 12 (4)pp.401-15.en_GB
dc.identifier.issn1355-4786en
dc.identifier.pmid16581809en
dc.identifier.doi10.1093/humupd/dml011en
dc.identifier.urihttp://hdl.handle.net/10547/250976en
dc.descriptionReview of the articleen_GB
dc.description.abstractMitochondria are the organelles responsible for producing the majority of a cell's ATP and also play an essential role in gamete maturation and embryo development. ATP production within the mitochondria is dependent on proteins encoded by both the nuclear and the mitochondrial genomes, therefore co-ordination between the two genomes is vital for cell survival. To assist with this co-ordination, cells normally contain only one type of mitochondrial DNA (mtDNA) termed homoplasmy. Occasionally, however, two or more types of mtDNA are present termed heteroplasmy. This can result from a combination of mutant and wild-type mtDNA molecules or from a combination of wild-type mtDNA variants. As heteroplasmy can result in mitochondrial disease, various mechanisms exist in the natural fertilization process to ensure the maternal-only transmission of mtDNA and the maintenance of homoplasmy in future generations. However, there is now an increasing use of invasive oocyte reconstruction protocols, which tend to bypass mechanisms for the maintenance of homoplasmy, potentially resulting in the transmission of either form of mtDNA heteroplasmy. Indeed, heteroplasmy caused by combinations of wild-type variants has been reported following cytoplasmic transfer (CT) in the human and following nuclear transfer (NT) in various animal species. Other techniques, such as germinal vesicle transfer and pronuclei transfer, have been proposed as methods of preventing transmission of mitochondrial diseases to future generations. However, resulting embryos and offspring may contain mtDNA heteroplasmy, which itself could result in mitochondrial disease. It is therefore essential that uniparental transmission of mtDNA is ensured before these techniques are used therapeutically.en_GB
dc.language.isoenen
dc.publisherOxford University Pressen_GB
dc.relation.urlhttp://www.ncbi.nlm.nih.gov/pubmed/16581809en_GB
dc.relation.urlhttp://humupd.oxfordjournals.org/content/12/4/401.longen
dc.rightsArchived with thanks to Human reproduction updateen_GB
dc.subjectassisted reproduction technologyen_GB
dc.subjectmitochondrial DNAen_GB
dc.subjectnuclear transferen_GB
dc.subject.meshAnimalsen
dc.subject.meshCell Nucleusen
dc.subject.meshCytoplasmen
dc.subject.meshDNA Replicationen
dc.subject.meshDNA, Mitochondrialen
dc.subject.meshEmbryonic Developmenten
dc.subject.meshFemaleen
dc.subject.meshHumansen
dc.subject.meshMaleen
dc.subject.meshOocytesen
dc.subject.meshPregnancyen
dc.subject.meshReproductive Techniques, Assisteden
dc.titleTransmission of mitochondrial DNA following assisted reproduction and nuclear transferen
dc.typeArticleen
dc.contributor.departmentUniversity of Birminghamen_GB
dc.identifier.journalHuman reproduction updateen_GB

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