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Untangling the mystery of Autism Spectrum Disorder

By Costa Maragos Posted: January 6, 2016 6:00 a.m.

U of R researchers (l-r)  Dr. Viktor Deineko, Dr. Ramy Habashy, Dr. Hiroyuki Aioki, Dr. Zoran Minic and Dr. Mohan Babu.
U of R researchers (l-r) Dr. Viktor Deineko, Dr. Ramy Habashy, Dr. Hiroyuki Aioki, Dr. Zoran Minic and Dr. Mohan Babu. Photo by Trevor Hopkin - U of R Photography.

The long and complex network of roads leading to a better understanding of Autism Spectrum Disorder is a little less tangled thanks to a collaborative research project between the University of Regina and Stanford University in California.

Stanford is one of the world’s highest ranked universities for research and teaching.

The research looks at the molecular basis that leads to Autism Spectrum Disorder, a condition that affects brain development. People with autism may have impaired social interaction and limited communication skills.

The research team took the genes that play a major role in autism, and then mapped each autism gene to see how they interact with the thousands of genes in neuronal cells of the brain.  

The findings have been published in the peer-reviewed journal “Cell Systems” - a Cell Press Journal, which states that “the prevalence of autism spectrum disorders is rapidly growing, yet its molecular basis is poorly understood.”

Achieving a better understanding of that molecular basis is a herculean task. Think of trying to get around thousands of roads and freeways that are tangled and out of sorts.

With direction from the team at Stanford, the U of R researchers found some headway here.

“As researchers, we were able to show that the interactions happening in the neuronal regions were relevant to autism and in the fetal brain development,” says Dr. Mohan Babu, assistant professor in the Department of Biochemistry, and Principle Investigator of the Babu Lab located at the U of R’s Research and Innovation Centre.

“One simple analogy here is to think of the interactions of all the parts that make up a car. If one part malfunctions then potentially there are problems to the point where the car won’t function properly,” explains Babu. ”To figure out the problem you can’t just isolate one part. Sometimes you have to backtrack to see what caused the problem. You have to examine and track the connectivity of those parts. It’s a similar principle to how the human body functions, relevant to diseases.”

The researchers mapped thousands of genes, thanks to the power of a sophisticated piece of scientific equipment, the high resolution Orbitrap Mass Spectrometer, which is in use at the Proteomics and Genomics Core Facility at the Research and Innovation Centre. Such equipment is critical for researchers like Babu to delineate the pathway related to mechanisms pertaining to autism and other human disease.

Some of the genes become mutated causing some form of Autism Spectrum Disorder.

The result showed how the critical interactions mapped were being regulated by two important autism genes, FMRP (Familial mental retardation protein) and MECP2 (methyl CpG binding protein 2 – Rett Syndrome).

“By understanding how this interaction is shared with other autism genes, we can target these interactions for pharmacology, to identify new drug targets and therapeutic interventions. This type of work can also be used to understand other complex disorders, such as Parkinsons, Alzheimers and other metabolic disorders,” says Babu.

The U of R team includes associates from the Babu Lab, Dr. Ramy Malty, Dr. Hiroyuki Aoki, Dr. Zoran Minic and Sadhna Phanse.

The research findings were shared with Dr. Michael Snyder, Stanford Ascherman Professor and Chair of Genetics and Director of the Centre of Genomics and Personalized Medicine at Stanford University and Dr. Jingjing Li (postdoctoral associate in Dr. Snyder’s lab)

“We are fortunate to have such a wonderful collaboration with Dr. Snyder and his team. This initial collaborative has laid the foundation for further collaborations,” says Babu.

Funding for this project came from the National Institutes of Health and Parkinson Society of Canada.  

Dr. Babu is a Canadian Institutes of Health Research new investigator fellow, which gives him further avenues to conduct his research.

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