U of R research team makes major discovery in understanding rare disorder

Researchers at the University of Regina have made a medical breakthrough.

A research team led by the U of R, that includes collaborators from Japan and Italy, have made a discovery which hopefully will bring the medical profession one step closer to understanding and curing a rare condition called mitochondrial respiratory chain deficiency.

Dr. Mohan Babu is a biochemist at the university and serves as the head of the team. He and his colleagues found a new function for a previously unknown gene, which when mutated had a reduced level of mitochondrial respiration.

He discussed how the genetic mutation plays a large role in the disease.

“Understanding this one gene will help us give a framework of how other mitochondrial genes might function in the cells, more specifically with patients with other respiratory chain deficiencies,” said Babu.

The next step for Dr. Babu and the team is to begin understanding what exactly the mutation is doing and how it is contributing to the respiratory chain deficiency.

He hopes this discovery can go a long ways to curing the disease.

“Early diagnosis and early prevention is very important, and of course identifying a potential target with proper biomarkers down the road.”

Dr. Babu mentioned how there’s so much about rare diseases and disorders that scientists and doctors don’t know, but the research into them is imperative for human health.

In Canada, about one in twelve people are affected by a rare disease, most being caused by gene mutations including those in mitochondria.

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