Medical Daily: Gene behind autism and schizophrenia discovered

Gene behind autism and schizophrenia discovered
Medical Daily Staff Writer | 20 November 2010 @ 03:48 pm EST


A new study has revealed that a severe mutation in the 15-Gene area increases the risk of autism and schizophrenia.
The study was presented at the recent annual meeting of the American Society of Human Genetics.

Scientists have already identified the relation between severe gene mutations in the crucial brain cells and neurodevelopment disorders like autism and schizophrenia. But, this is for the first time they have identified the specific gene mutation that causes both these disorders. A severe gene mutation in the genome regions of the chromosome 17 confers this disease.

Researchers at the Emory University studied around 15, 749 patients recommended for clinical analysis. In 15 percent of the participants who is diagnosed with autism, researchers found increased or severe gene mutation or 17q12 deletion in the genome area of chromosome 17 which was not present in any of the controlled patients. Most of the autistic patients in this study has also diagnosed with kidney diseases or diabetes.

"The 17q12 deletion is among the 10 most frequent pathogenic recurrent genomic deletions identified in children with unexplained neurodevelopmental impairments," the researchers said.

According to the study findings this deletion is also associated with other neurodevelopment disorders like schizophrenia and renal cysts and diabetes syndrome (RCAD). Researchers have studied 2167 schizophrenia patients. "The phenotypic spectrum of patients with the 17q12 deletion is consistent with a gene syndrome that extends beyond RCAD," Dr. Moreno-De-Luca, said . "We have uncovered a recurrent pathogenic CNV that confers a very high risk for ASD, schizophrenia, and neurodevelopmental disorders."

The 17q12 region houses 15 genes including the RCAD gene HNF1B. According to the scientists the deletion of 17q12 gene can also increase the risk of other neurological and psychological diseases like bipolar disease.Autism and schizophrenia are the most severe neuro development disorders identified. Autism is diagnosed in 1 out of 500 people whereas schizophrenia is prevalent in 1 out of 100.

Both these diseases apparent in early childhood are more prevalent in males than females.
Medical Daily: Gene behind autism and schizophrenia discovered