Published 30 January 2009, doi:10.1136/bmj.b94
Cite this as: BMJ 2009;338:b94

Clinical Review

Science, Medicine, and the Future

Preventing transmission of maternally inherited mitochondrial DNA diseases

Joanna Poulton, professor of mitochondrial genetics1, Stephen Kennedy, reader in obstetrics and gynaecology1, Pippa Oakeshott, reader in general practice2, Dagan Wells, senior fellow in reproductive genetics1

1 Nuffield Department of Obstetrics, University of Oxford, Oxford OX3 9DU, 2 Community Health Sciences, St George’s, University of London, London SW17 0RE

Correspondence to: J Poulton joanna.poulton@obs-gyn.ox.ac.uk

The first 150 words of the full text of this article appear below.


About 1 in 400 people have a maternally inherited pathogenic mutation of mitochondrial DNA
Mutations may be asymptomatic or cause illnesses such as developmental regression, deafness, blindness, neuropathy, diabetes, cardiomyopathy, and liver failure
Patients may present at any age
Families with affected children often seek genetic counselling
Risk of recurrence is difficult to estimate because both mutant and normal mitochondrial DNA is present
New approaches using preimplantation genetic diagnosis, oocyte donation, or oocyte sampling may now give hope to affected families



We used our personal archive of references, Medline searches, and consultation with other experts in the field to produce this review. It is derived from 22 years of research and 11 years of genetic counselling in mitochondrial DNA diseases.


Maternally inherited mutations of mitochondrial DNA can be asymptomatic or cause illnesses such as developmental regression, deafness, blindness, neuropathy, diabetes, cardiomyopathy, and liver failure. Families who have lost a child . . . [Full text of this article]


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This article has been cited by other articles:

  • Benagiano, G., Carrara, S., Filippi, V. (2009). Sex and reproduction: an evolving relationship. Hum Reprod Update 0: dmp028v1-dmp028 [Abstract] [Full text]  

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MtDNA diagnostic centres in London and Newcastle
Joanna Poulton
bmj.com, 11 Feb 2009 [Full text]
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