Mapping Brain Region-Specific CHCHD2 Protein Assemblies and Uncovering its Variant Contribution to Parkinson’s Disease

Dr. Mohamed Moutaoufik
University of Regina
Basic Research Fellowship
$100,000 over 2 years

In 2015, the discovery of another gene linked to Parkinson’s opened up new research avenues into the causes of the disease.

The gene, named CHCHD2, encodes a protein that researchers believe regulates mitochondria – the energy-producing powerhouses in cells.

If those mitochondria are damaged or die, that can also cause the death of the neurons in Parkinson’s that produce dopamine, the chemical that communicates signals directing movement.

At the University of Regina, neuroscientist Mohamed Taha Moutaoufik is using a systems’ biology approach to study this gene, its protein, and mutated forms of the protein, to see how they interact with mitochondria.

Moutaoufik, a postdoctoral fellow, believes using systems biology combined with computational work, biochemistry and genetics to investigate all areas of the body could produce more answers to what causes Parkinson’s than concentrating more narrowly on the death of dopamine-producing brain cells.

“In the beginning, we (researchers) just thought about what was happening to the neurons,” Moutaoufik explains. “Now, we have amended our views to see what is happening to the mitochondria in the whole body and take all this into consideration.”

Moutaoufik will use animal models and human cells to knock out, or eliminate, the CHCHD2 gene and to create mutated forms of its protein. He’ll then study interactions between the proteins and mitochondria, to see if Parkinson’s symptoms develop depending on whether mutations are present or not.

He’ll also reverse the mutated proteins, to see if he can restore function and eliminate any symptoms the mutations caused in animal models.

His goal is to understand the exact role CHCHD2 and its protein play in the brain, and in the development of Parkinson’s.

Once researchers understand those roles, “we’ll be one step closer to having a treatment or cure for Parkinson’s, because we could develop a drug to replace the function of this gene and protein, and help to produce energy in the cells,” Moutaoufik says.

Eventually, he hopes his work will lead to either a new drug or the use of gene editing to prevent Parkinson’s.

Moutaoufik, who grew up in Morocco before moving to Canada to pursue graduate studies, was always fascinated by how people inherit family characteristics. Once he began to learn about genetics in high school, his curiosity led him into a research career.

He’s happy that he’s now working in an era where multidisciplinary research collaborations and his ability to use advanced genetic screening tools can help him contribute to the search for a cause of Parkinson’s.

How your support made this research project possible

Over the next decade, the number of Canadians living with Parkinson’s is expected to grow rapidly, Moutaoufik points out.

That reality makes it even more urgent that researchers determine the causes of Parkinson’s and develop new treatments, he says.

“Donating for science and research will help those people get better treatment and improve their quality of life,” says Moutaoufik.

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