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Prevalence, segrega...
Prevalence, segregation, and phenotype of the mitochondrial DNA 3243A>G mutation in children
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- Uusimaa, Johanna (author)
- Department of Paediatrics, University of Oulu, Oulu, Finland, Clinical Research Center, Oulu University Hospital, Oulu, Finland,University of Oulu and Oulu University Hospital, Finland
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- Moilanen, Jukka S (author)
- Department of Clinical Genetics, University of Oulu, Oulu, Finland, Institute of Medical Technology, University of Tampere, Tampere, Finland,University of Oulu and University of Tampere, Finland
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- Vainionpää, Leena (author)
- Vainionpää, L., Department of Paediatrics, University of Oulu, Oulu, Finland,University of Oulu, Finland
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- Tapanainen, Päivi (author)
- Department of Paediatrics, University of Oulu, Oulu, Finland,University of Oulu, Finland
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- Lindholm, Päivi (author)
- Department of Otorhinolaryngology, University of Oulu, Oulu, Finland, Department of Child Psychiatry, University of Oulu, Oulu, Finland,University of Oulu, Finland
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- Nuutinen, Matti (author)
- Department of Paediatrics, University of Oulu, Oulu, Finland,University of Oulu, Finland
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- Löppönen, Tuija (author)
- Löppönen, T., Department of Clinical Genetics, University of Oulu, Oulu, Finland, Department of Paediatrics, University of Kuopio, Kuopio, Finland,University of Oulu and University of Kuopio, Finland
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- Mäki-Torkko, Elina, 1961- (author)
- Östergötlands Läns Landsting,Linköpings universitet,Örebro universitet,Institutionen för medicinska vetenskaper,Department of Otorhinolaryngology, University of Oulu, Oulu; Department of Otorhinolaryngology, Linköping University Hospital, Linköping, Sweden,Hälsouniversitetet,Öronkliniken US,University of Oulu, Finland,Oto-Rhino-Laryngologi
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- Rantala, Heikki (author)
- Department of Paediatrics, University of Oulu, Oulu, Finland,University of Oulu, Finland
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- Majamaa, Kari (author)
- Clinical Research Center, Oulu University Hospital, Oulu, Finland, Department of Neurology, University of Oulu, Oulu, Finland, Department of Neurology, University of Turku, Turku, Finland, Department of Neurology, University of Turku, FIN-20014 Turku, Finland,Oulu University Hospital and University of Oulu and University of Turku, Finland
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(creator_code:org_t)
- 2007
- 2007
- English.
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In: Annals of Neurology. - : John Wiley & Sons. - 0364-5134 .- 1531-8249. ; 62:3, s. 278-287
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https://doi.org/10.1...
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https://urn.kb.se/re...
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Abstract
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- OBJECTIVE: We studied the prevalence, segregation, and phenotype of the mitochondrial DNA 3243A>G mutation in children in a defined population in Northern 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 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).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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Oto-rhino-laryngologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Otorhinolaryngology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Pediatrik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Pediatrics (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Neurologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Neurology (hsv//eng)
Keyword
- NATURAL SCIENCES
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Uusimaa, Johanna
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Moilanen, Jukka ...
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Vainionpää, Leen ...
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Tapanainen, Päiv ...
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Lindholm, Päivi
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Nuutinen, Matti
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Löppönen, Tuija
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Mäki-Torkko, Eli ...
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Rantala, Heikki
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Majamaa, Kari
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Otorhinolaryngol ...
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Pediatrics
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Neurology
- Articles in the publication
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Annals of Neurol ...
- By the university
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Örebro University
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Linköping University