An investigation of mitochondrial haplogroups in autism

Lindsey Kent; L Gallagher; HR Elliot; C Mowbray; PF Chinnery

doi:10.1002/ajmg.b.30687

An investigation of mitochondrial haplogroups in autism

Lindsey Kent, L Gallagher, HR Elliot, C Mowbray, PF Chinnery

School of Medicine

Research output: Contribution to journal › Article › peer-review

Abstract

Family and twin studies provide strong evidence of a major genetic influence in autism, but the underlying gene defects have yet to be characterized. The mothers of boys with autism share autistic traits, raising the possibility of a maternally inherited factor. Mitochondrial DNA (mtDNA) is almost exclusively inherited down the maternal line. We therefore explored the possibility that a particular mtDNA lineage contributes to the risk of developing autism. The mtDNA haplogroup was determined in 162 autism probands, and compared to two sets of population controls. Results show no compelling evidence of an association of any mitochondrial haplogroup in autism. (c) 2007 Wiley-Liss, Inc.

Original language	English
Pages (from-to)	987-989
Number of pages	3
Journal	American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
Volume	147B
Issue number	6
Early online date	27 Dec 2007
DOIs	https://doi.org/10.1002/ajmg.b.30687
Publication status	Published - 5 Sept 2008

Keywords

child psychiatry
molecular genetics
autism spectrum disorders
CARRIER SLC25A12 GENE
SPECTRUM DISORDERS
DNA HAPLOGROUPS
CHILDREN
POLYMORPHISMS
ASSOCIATION
PHENOTYPE
PARENTS
DISEASE

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abstract = "Family and twin studies provide strong evidence of a major genetic influence in autism, but the underlying gene defects have yet to be characterized. The mothers of boys with autism share autistic traits, raising the possibility of a maternally inherited factor. Mitochondrial DNA (mtDNA) is almost exclusively inherited down the maternal line. We therefore explored the possibility that a particular mtDNA lineage contributes to the risk of developing autism. The mtDNA haplogroup was determined in 162 autism probands, and compared to two sets of population controls. Results show no compelling evidence of an association of any mitochondrial haplogroup in autism. (c) 2007 Wiley-Liss, Inc.",

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T1 - An investigation of mitochondrial haplogroups in autism

AU - Kent, Lindsey

AU - Gallagher, L

AU - Elliot, HR

AU - Mowbray, C

AU - Chinnery, PF

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AB - Family and twin studies provide strong evidence of a major genetic influence in autism, but the underlying gene defects have yet to be characterized. The mothers of boys with autism share autistic traits, raising the possibility of a maternally inherited factor. Mitochondrial DNA (mtDNA) is almost exclusively inherited down the maternal line. We therefore explored the possibility that a particular mtDNA lineage contributes to the risk of developing autism. The mtDNA haplogroup was determined in 162 autism probands, and compared to two sets of population controls. Results show no compelling evidence of an association of any mitochondrial haplogroup in autism. (c) 2007 Wiley-Liss, Inc.

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KW - molecular genetics

KW - autism spectrum disorders

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KW - SPECTRUM DISORDERS

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KW - CHILDREN

KW - POLYMORPHISMS

KW - ASSOCIATION

KW - PHENOTYPE

KW - PARENTS

KW - DISEASE

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JF - American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics

IS - 6

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An investigation of mitochondrial haplogroups in autism

Abstract

Keywords

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