Autism Patients Carry Common Sequence Variations In Gene, Study

A recent study reveals that autism patients are more likely to carry specific sequence variations of a particular gene. Interestingly, the same gene is also linked to empathy quotient in the general public, the researchers claim.

The variations in the gene are possible indicators of Asperger Syndrome, an autism spectrum disorder.

The study was conducted by researchers at Autism Research Centre in Cambridge University and was led by Professor Baron-Cohen. The researchers looked for the sequence variations called single nucleotide polymorphisms or SNPs in the gene GABRB3. GABRB3 is the key gene that regulates the functioning of a neurotransmitter, gamma-aminobutyric acid, which contains a number of SNPs that vary with population. The gene GABRB3 is a potential indicator of Asperger Syndrome.

Genes from 530 adults were examined that included 118 people having Asperger Syndrome disorder and 412 without it. The researchers found certain SNPs are common in the people suffering from Asperger Syndrome. The same variations present in the gene GABRB3 also help in determining the level of empathy in general public.

To further confirm their findings the researchers examined the genes from another group of volunteers. The tests results again showed three SNPs to be common for Asperger Syndrome patients. Two different SNPs on the gene GABRB3 were also found to be co-related to empathy quotient, confirming GABRB3 is linked to AS. Empathy Quotient is an empathy measuring score in the general population.

"Genes play an important role in autism and Asperger Syndrome. This new study adds to evidence that GABRB3 is a key gene underlying these conditions. This gene is involved in the functioning of a neurotransmitter that regulates excitation and inhibition of nerve cell activity so the research gives us vital additional information about how the brain may develop differently in people with Asperger Syndrome," said Dr Bhismadev Chakrabarti, the co-author of the study, reports medical express.

Asperger Syndrome sufferers have difficulty in social communication, although they score well on language and intelligence skills. Researchers emphasize that there is a variation in the levels of autism disorder and it cannot be treated as one.

"The most important aspect of this research is that it points to common genetic variants in GABRB3 being involved in both AS and in empathy as a dimensional trait," said Varun Warrier, one of the lead researchers in a statement. "Although GABRB3 is not the only gene to be involved in this condition and in empathy levels, we are confident that we have identified one of the key players."

Tags
Autism, Empathy, Gene, Common
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