Journal article
Cortical Enlargement in Autism is Associated With a Functional VNTR in the Monoamine Oxidase A Gene
American journal of medical genetics. Part B, Neuropsychiatric genetics, Vol.147B(7), pp.1145-1151
10/05/2008
DOI: 10.1002/ajmg.b.30738
PMCID: PMC2752707
PMID: 18361446
Abstract
Monoamine oxidase A (
MAOA
) is an enzyme expressed in the brain that metabolizes dopamine, norepinephrine, epinephrine, and serotonin. Abnormalities of serotonin neurotransmission have long been implicated in the psychopathology of autism. A polymorphism exists within the promoter region of the
MAOA
gene that influences
MAOA
expression levels so that “low activity” alleles are associated with increased neurotransmitter levels in the brain. Individuals with autism often exhibit elevated serotonin levels. Additional studies indicate that the “low activity” allele may be associated with lower IQ and more severe autistic symptoms. In this study we genotyped the
MAOA
promoter polymorphism in a group of 29 males (age 2–3 years) with autism and a group of 39 healthy pediatric controls for whom brain MRI data was available. We found a consistent association between the “low activity” allele and larger brain volumes for regions of the cortex in children with autism but not in controls. We did not find evidence for over-transmission of the “low activity” allele in a separate sample of 114 affected sib pairfamilies. Nor did we find any unknown SNPs in yet another sample of 96 probands. Future studies will determine if there is a more severe clinical phenotype associated with both the “low activity” genotype and the larger brain volumes in our sample.
Details
- Title: Subtitle
- Cortical Enlargement in Autism is Associated With a Functional VNTR in the Monoamine Oxidase A Gene
- Creators
- Lea K Davis - The Howard Hughes Medical Institute, Iowa City, IowaHeather C Hazlett - The Howard Hughes Medical Institute, Iowa City, IowaAmy L Librant - The Howard Hughes Medical Institute, Iowa City, IowaPeggy Nopoulos - The Howard Hughes Medical Institute, Iowa City, IowaVal C Sheffield - The Howard Hughes Medical Institute, Iowa City, IowaJoesph Piven - The Howard Hughes Medical Institute, Iowa City, IowaThomas H Wassink - The Howard Hughes Medical Institute, Iowa City, Iowa
- Resource Type
- Journal article
- Publication Details
- American journal of medical genetics. Part B, Neuropsychiatric genetics, Vol.147B(7), pp.1145-1151
- DOI
- 10.1002/ajmg.b.30738
- PMID
- 18361446
- PMCID
- PMC2752707
- NLM abbreviation
- Am J Med Genet B Neuropsychiatr Genet
- ISSN
- 1552-4841
- eISSN
- 1552-485X
- Language
- English
- Date published
- 10/05/2008
- Academic Unit
- Neurology; Psychiatry; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Medical Genetics and Genomics; Ophthalmology and Visual Sciences
- Record Identifier
- 9984003479502771
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