An investigation of mitochondrial haplogroups in autism

Lindsey Kent, Louise Gallagher, Hannah R Elliott, Catherine Mowbray, Patrick F Chinnery

Research output: Contribution to journalArticle (Academic Journal)peer-review

13 Citations (Scopus)


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.
Original languageEnglish
Pages (from-to)987-9
Number of pages3
JournalAmerican Journal of Medical Genetics, Part B: Neuropsychiatric Genetics
Issue number6
Publication statusPublished - 5 Sep 2008

Bibliographical note

2007 Wiley-Liss, Inc.


  • Autistic Disorder
  • Case-Control Studies
  • Child
  • Child of Impaired Parents
  • DNA, Mitochondrial
  • Female
  • Gene Frequency
  • Haplotypes
  • Humans
  • Male
  • Mitochondrial Diseases


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