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Prevalence, segregation, and phenotype of the mitochondrial DNA 3243A>G mutation in children
Department of Paediatrics, University of Oulu, Oulu, Finland, Clinical Research Center, Oulu University Hospital, Oulu, Finland.
Department of Clinical Genetics, University of Oulu, Oulu, Finland, Institute of Medical Technology, University of Tampere, Tampere, Finland.
Vainionpää, L., Department of Paediatrics, University of Oulu, Oulu, Finland.
Department of Paediatrics, University of Oulu, 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]

Objective: We studied the prevalence, segregation, and phenotype of the mitochondrial DNA 3243A>G mutation in children in a defined population in Notthern Ostrobothnia, Finland. Methods: 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. Results: 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 hetetoplasmy 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). Interpretation: 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. © 2007 American Neurological Association.

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2007. Vol. 62, no 3, 278-287 p.
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Natural Sciences
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URN: urn:nbn:se:liu:diva-48789DOI: 10.1002/ana.21196OAI: oai:DiVA.org:liu-48789DiVA: diva2:269685
Available from: 2009-10-11 Created: 2009-10-11 Last updated: 2017-12-12

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