Researchers discover genetic mutation that plays major role in rare disease

News Release Release Date: October 7, 2019 10:45 a.m.

A University of Regina-led research team, which includes collaborators from the University of Saskatchewan, Japan, and Italy, has made a major discovery that will bring them one step closer to understanding and curing a rare condition called mitochondrial respiratory chain deficiency.

“These types of rare metabolic disorders affect our brain, liver, tissues, and muscles, yet we don’t know how gene mutations will manifest,” says Dr. Mohan Babu, a biochemist at the University of Regina who is leading the team that made the find. “We are in a race to find out, because rare diseases are becoming more common.”

In Canada, about one in twelve people are affected by a rare disease. Most are caused by gene mutations, including those in mitochondria, which are what generate energy in our cells to keep our bodies functioning. And a mutation in the mitochondrial gene can contribute to rare disorders.

“Our research team has discovered a new function for a previously unknown gene,” said Babu. “We renamed this unknown – or orphan – mitochondrial gene RCAF1 – which stands for respirasome complex assembly factor 1, because this particular gene has a significant role in respiration that is required for our energy balance.”

The team sequenced close to 300 samples from Japanese patients with respiratory chain deficiencies, and in 16 of the 300 people the researchers discovered a very rare variant – or mutation – in a particular gene that previously had an unknown function. The mutation resulted in the gene having a reduced level of mitochondrial respiration.

Using samples from Italian patients with the respiratory chain deficiency gene mutation, the researchers used CRISPR technology (a powerful tool that allows researchers to edit or alter genes) to reverse the respiration defect from patients with respiratory chain deficiency. The correct gene sequence was added back into the mutated gene of the respiratory chain deficient patients and the respiration level was restored.

The team’s next step is finding out what mechanism behind the mutation is contributing to respiratory chain deficiency.

The Canadian Organization for Rare Disorders reports that there are currently more than 7,000 rare diseases that are known, with more being discovered each year.

“There is so much about rare diseases and disorders that scientists and doctors don’t know, but we do know that research into them is imperative for human health,” said Babu.

The research team’s findings were recently published in the journal iScience, an interdisciplinary open access journal. It publishes basic and applied research that advances a specific field across the life, physical, and earth sciences.


About The University of Regina

The University of Regina—with campuses located on Treaty 4 and Treaty 6 territories, the ancestral lands of the Cree, Saulteaux, Dakota, Lakota and Nakoda nations and the homeland of the Métis—is a comprehensive, mid-sized university that traces its roots back to the creation of Regina College in 1911. Today, more than 16,500 students study within the University's 10 faculties, 25 academic departments/schools, 18 research centres and institutes, and three federated colleges (Campion College, First Nations University of Canada, and Luther College). The University of Regina has an established reputation for excellence and innovative programs that lead to undergraduate, master, and doctoral degrees.


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