Newly Discovered Gene May Be Linked to ASD

Researchers may have linked a particular gene to the development of autism and other neurological disorders. A team at the Children’s Hospital of Philadelphia have pinpointed that variations in the RANBP1 gene may disrupt brain signaling. This finding can potentially pave the way for scientists to develop treatments targeting this gene.

Dr. Hakon Hakonarson, Director of the Center for Applied Genomics at the hospital and member of the Icare Advisory Committee, states, “The gene we investigated may function as an important factor, not only in forms of autism, but also in other neuropsychiatric conditions.” He continues, “We have uncovered underlying molecular defects across disease categories, suggesting that these biological networks are good targets for future research.”

For the study, Dr. Hakonarson and his team analyzed DNA sequences of over 500 children with autism disorders, comparing them with the DNA sequences of 75 children with 22q11.2 deletion syndrome, a disorder caused by defects in the 22nd chromosome. The team looked for copy number variations, or CNVs, within a particular gene network: the metabotropic glutamate receptor (mGluR) pathway.

According to previous studies conducted by this team, genes on the mGluR network were highly likely to be disturbed in individuals with ASD. The recently conducted study showcased that 74% of the children with CNVs in the mGluR network also had the prevalence of the syndromic subtype of ASD.

Furthermore, disturbances in this gene family have also been known to affect individuals with schizophrenia and ADHD. By studying 75 children with 22q11.2 deletion syndrome, the team discovered that the deleted region contains the mGluR network with gene RANBP1.

Dr. Hakonarson states, “Based on this study, we propose that the RANBP1 gene is a significant genetic factor in both ASD and 22q.11.2 deletion syndrome. When the mGluR network is disrupted at multiple points, it predisposes individuals to a more severe disease.” Further research can potentially highlight how the RANBP1 gene disrupts brain circuitry, and how additional gene variations in the mGluR network can increase the risk of ASD development. Dr. Hakonarson adds, “This could be the basis for one of the first examples of precision medicine focus in drug development for complex disease.”


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