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Modulating mitochondrial quality in disease transmission: towards enabling mitochondrial DNA disease carriers to have healthy children

Abstract:

One in 400 people has a maternally inherited mutation in mtDNA potentially causing incurable disease. In so-called heteroplasmic disease, mutant and normal mtDNA co-exist in the cells of carrier women. Disease severity depends on the proportion of inherited abnormal mtDNA molecules. Families who have had a child die of severe, maternally inherited mtDNA disease need reliable information on the risk of recurrence in future pregnancies. However, prenatal diagnosis and even estimates of risk are...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Publisher's version

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Publisher copy:
10.1042/BST20160095

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Department:
Oxford, MSD, Obstetrics & Gynaecology
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Department:
Oxford, MSD, Obstetrics & Gynaecology
More by this author
Department:
Oxford, MSD, Obstetrics & Gynaecology
More by this author
Department:
Oxford, MSD, Obstetrics & Gynaecology
More by this author
Department:
Oxford, MSD, Obstetrics & Gynaecology
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Grant:
NewLife (SG/14-15/11)
Publisher:
Portland Press Publisher's website
Journal:
Biochemical Society transactions Journal website
Volume:
44
Issue:
4
Pages:
1091-1100
Publication date:
2016-08-05
Acceptance date:
2016-05-24
DOI:
EISSN:
1470-8752
ISSN:
0300-5127
Pubs id:
pubs:639025
URN:
uri:1161c200-d4a2-4d00-a712-9495dd88b9a3
UUID:
uuid:1161c200-d4a2-4d00-a712-9495dd88b9a3
Local pid:
pubs:639025

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