Author Interviews, Autism / 12.09.2014
Autism Spectrum Disorder: Gene That Removes Defective Proteins May Be Altered
MedicalResearch.com: Interview with:
Anilkumar Pillai, Ph.D.
Associate Professor, Department of Psychiatry
Medical College of Georgia, Georgia Regents University
(Formerly Georgia Health Sciences University)
Medical Research: What are the main findings of the study?
Dr. Pillai: GABA receptors are responsible for binding GABA, the main inhibitory neurotransmitter in the human brain. Recent studies have indicated a potential role for alterations in GABAA receptors in the pathophysiology of Autism Spectrum Disorder (ASD). However, the mechanism of regulation of GABAA receptor in Autism Spectrum Disorder is not known. Our study shows that GABAA levels are altered at the protein level, but not at the mRNA level in the middle frontal gyrus of Autism Spectrum Disorder subjects. Our study also finds that Synoviolin 1 (SYVN1) plays a critical role as an E3 ligase in GABAAα1 degradation. SYVN1 has been previously determined to function as a removal system of inappropriately folded or unfolded proteins from the ER to the cytosol of the cell for degradation. Our study ultimately provides a mechanism for GABAAα1 deficits in Autism Spectrum Disorder subjects and possible new treatment strategies to reverse deficits seen in ASD and other related disorders.





















