Missing Gene Restores Brain Function In Autism Patients.

In Autism, Brain Disorders, Brain Science, Genetics by Brainy Days Ahead

A missing gene may restore brain function in autism patients. The missing gene maintains connections between neurons. Scientists at the Peter O’Donnell Jr. Brain Institute at UT Southwestern Medical Center demonstrate in mice that the gene regulates a protein capable of inhibiting the ability of neurons to communicate with each other.  Brain connections lost due to absence of the gene can be fully restored within hours by using drugs that block the protein. The scientists deleted the gene KCTD13 in mice and through various measurements disproved previous research that had indicated that the gene’s deletion would cause brain overgrowth in the particular chromosomal region. Instead, the absence of the gene reduced by 50 percent the number of synaptic connections through which neurons communicated with each other. KCTD13 is one of 29 genes within chromosome 16 that is strongly linked to autism, developmental delay, and intellectual disability. The discovery will guide future research in the effort to improve early diagnosis of autism and advance the shifting research focus to biological measurements instead of behavioral symptoms.