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An investigation of mitochondrial haplogroups in autism

Lookup NU author(s): Dr Hannah Elliott, Dr Catherine Mowbray, Professor Patrick Chinnery


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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.

Publication metadata

Author(s): Kent L, Gallagher L, Elliott HR, Mowbray C, Chinnery PF

Publication type: Article

Publication status: Published

Journal: American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics

Year: 2008

Volume: 147B

Issue: 6

Pages: 987-989

ISSN (print): 1552-4841

ISSN (electronic): 1552-485X

Publisher: John Wiley & Sons, Inc.