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Prevalence, segregation, and phenotype of the mitochondrial DNA 3243A>G mutation in children
University of Oulu and Oulu University Hospital, Finland.
University of Oulu and University of Tampere, Finland.
University of Oulu, Finland.
University of Oulu, Finland.
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2007 (English)In: Annals of Neurology, ISSN 0364-5134, E-ISSN 1531-8249, Vol. 62, no 3, 278-287 p.Article in journal (Refereed) Published
Abstract [en]


We studied the prevalence, segregation, and phenotype of the mitochondrial DNA 3243A>G mutation in children in a defined population in Northern Ostrobothnia, Finland.


Children with diagnoses commonly associated with mitochondrial diseases were ascertained. Blood DNA from 522 selected children was analyzed for 3243A>G. Children with the mutation were clinically examined. Information on health history before the age of 18 years was collected from previously identified adult patients with 3243A>G. Mutation segregation analysis in buccal epithelial cells was performed in mothers with 3243A>G and their children whose samples were analyzed anonymously.


Eighteen children were found to harbor 3243A>G in a population of 97,609. A minimum estimate for the prevalence of 3243A>G was 18.4 in 100,000 (95% confidence interval, 10.9-29.1/100,000). Information on health in childhood was obtained from 37 adult patients with 3243A>G. The first clinical manifestations appearing in childhood were sensorineural hearing impairment, short stature or delayed maturation, migraine, learning difficulties, and exercise intolerance. Mutation analysis from 13 mothers with 3243A>G and their 41 children gave a segregation rate of 0.80. The mothers with heteroplasmy greater than 50% tended to have offspring with lower or equal heteroplasmy, whereas the opposite was true for mothers with heteroplasmy less than or equal to 50% (p = 0.0016).


The prevalence of 3243A>G is relatively high in the pediatric population, but the morbidity in children is relatively low. The random genetic drift model may be inappropriate for the transmission of the 3243A>G mutation.

Place, publisher, year, edition, pages
John Wiley & Sons, 2007. Vol. 62, no 3, 278-287 p.
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URN: urn:nbn:se:liu:diva-101424DOI: 10.1002/ana.21196PubMedID: 17823937OAI: diva2:666214
Available from: 2013-11-22 Created: 2013-11-22 Last updated: 2013-12-18

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Mäki-Torkko, Elina
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Faculty of Health SciencesDepartment of ENT - Head and Neck Surgery UHL
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