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Absence of single gene could cause autism

Absence of single gene could cause autism
3rd July 2012

A new study has suggested that the absence of a single gene could cause autism and autism-like symptoms.

Researchers from Harvard Medical School made the discovery when deleting a gene associated with Tuberous Sclerosis Complex (TSC) in the cerebellum of mice.

TSC is a genetic condition that causes patients to experience growths in different organs of the body, including brain, heart, eyes, skin, kidneys and lungs.

Nearly 50 per cent of all people with TSC develop autism, and upon the removal of the gene mice began to exhibit autistic behaviours.

Researchers also found that rapamycin, a drug used as an immunosuppressant, can help to prevent these symptoms.

It is hoped that the study will improve the understanding of both autism and its links to TSC.

Mustafa Sahin, Harvard Medical School associate professor and lead author on the paper, commented: "knowing that deleting the genes associated with TSC in the cerebellum leads to autistic symptoms is a vital step in figuring out that circuitry."

Find out about Barchester's support for adults and children with a wide range of Autistic spectrum conditions.