RobinN
Super Mom
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Perhaps these researchers should get together and talk once in a while. Perhaps we could sponsor a golf tournament.
3/10/2008
http://www.medicalnewstoday.com/articles/100037.php
8/3/2005
3/10/2008
Different types of GABAA receptor have been shown to play various roles in the body's control of behaviour and development. The Cambridge scientists are the first to determine the structure of a type of GABAA receptor containing the so-called delta sub-unit. This receptor type is found in small numbers in the body but is thought to be disproportionately important in controlling our state of consciousness; it is highly sensitive to anaesthetics, and has been linked to epilepsy and pre-menstrual tension, and to the body's response to alcohol.
http://www.medicalnewstoday.com/articles/100037.php
8/3/2005
http://www.webmd.com/brain/autism/news/20050803/gene-interaction-linked-to-autism-riskIt has long been suspected that this filtering process is compromised in many autistic children. Impairment of the GABA system could overwhelm the brain with sensory information, leading to many of the behavior traits associated with autism.
GABA is believed to play a key role in the early development of the brain, and the Duke researchers and others have previously shown a connection between GABA and autism.
In their latest study, Pericak-Vance and colleagues examined 14 genes that help make parts of the GABA receptor. The receptors allow the chemical to affect nerve function.
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1513515Autism is a neurodevelopmental disorder of complex genetics, characterized by impairment in social interaction and communication, as well as repetitive behavior. Multiple lines of evidence, including alterations in levels of GABA and GABA receptors in autistic patients, indicate that the GABAergic system, which is responsible for synaptic inhibition in the adult brain, may be involved in autism. Previous studies in our lab indicated association of noncoding single nucleotide polymorphisms (SNPs) within a GABA receptor subunit gene on chromosome 4, GABRA4, and interaction between SNPs in GABRA4 and GABRB1 (also on chromosome 4), within Caucasian autism patients. Studies of genetic variation in African-American autism families are rare. Analysis of 557 Caucasian and an independent population of 54 African-American families with 35 SNPs within GABRB1 and GABRA4 strengthened the evidence for involvement of GABRA4 in autism risk in Caucasians (rs17599165, p=0.0015; rs1912960, p=0.0073; and rs17599416, p=0.0040) and gave evidence of significant association in African-Americans (rs2280073, p=0.0287 and rs16859788, p=0.0253). The GABRA4 and GABRB1 interaction was also confirmed in the Caucasian dataset (most significant pair, rs1912960 and rs2351299; p=0.004). Analysis of the subset of families with a positive history of seizure activity in at least one autism patient revealed no association to GABRA4; however, three SNPs within GABRB1 showed significant allelic association; rs2351299 (p=0.0163), rs4482737 (p=0.0339), and rs3832300 (p=0.0253). These results confirmed our earlier findings, indicating GABRA4 and GABRB1 as genes contributing to autism susceptibility, extending the effect to multiple ethnic groups and suggesting seizures as a stratifying phenotype.