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MUHC-led research identifies risk-factor genes for type 2 diabetes

Published: 11 February 2007

A new study led by researchers at the ۲ݮƵ University Health Centre (MUHC) has identified four genes that increase the risk of developing type 2 diabetes. This form of diabetes is the most common worldwide and affects nearly 2 million Canadians. In recent years, the prevalence of type 2 diabetes has increased rapidly. This genetic discovery may help stem this rise.

This genetic study, published today in the journal Nature, was led by MUHC endocrinologist Dr. Rob Sladek at the ۲ݮƵ University and Genome Quebec Innovation Centre together with Dr. Constantin Polychronakos at the MUHC and Dr. Philippe Froguel at the Pasteur Institute (Lille, France). The study also involved scientists at the University of Montreal, Imperial College (London, UK) and the Montreal Diabetes Research Centre.

Sladek and his colleagues systematically searched the entire human genome to identify genes that predispose individuals to developing diabetes. By comparing hundreds of thousands of DNA fragments from patients with diabetes to those from non-diabetic individuals, they discovered that patients who developed diabetes shared common gene variants on chromosomes 8, 10 and 11.

“Of the four genes we have identified, two are involved in the development or function of insulin-secreting cells and one plays a role in the transport of zinc, an important mineral required for the production of insulin,” says Sladek.

“We used a totally new concept and technology to look for the genes,” says Polychronakos. “It worked very successfully and our findings are proof of principle that these approaches can be used to dissect the genetic component of other complex diseases and, eventually, other complex human traits.”

Type 2 diabetes is the most common form of diabetes in adults and is becoming increasingly common in children. It is caused by the decreased production or effect of insulin, a hormone that is secreted by the pancreas and which regulates the amount of glucose in the blood. It has been known for some time that type 2 diabetes is caused by a combination of genetic and lifestyle factors. The group’s new finding helps identify the population at the highest risk of developing this disease.

The research was funded by a grant from Genome Canada and Génome Québec headed by Dr. Barry I. Posner, professor of medicine at ۲ݮƵ University and the MUHC; and by a grant from the Canada Foundation for Innovation to the Montreal Diabetes Research Centre, headed by Dr. Marc Prentki, professor of medicine at the University of Montreal.

“In the last few years, advances in technology pioneered in Quebec have made complex genetic analyses, such as those used in this study, possible,” stated Génome Québec President Paul L’Archevêque. “Without these advances and the collaboration between institutes, this research would not have been possible. The experimental approach used in this study, may help lead to the unraveling of other complex genetic diseases.”

The Research Institute of the ۲ݮƵ University Health Centre (RI MUHC) is a world-renowned biomedical and health care hospital research centre. Located in Montreal, Quebec, the institute is the research arm of the MUHC, a university health centre affiliated with the Faculty of Medicine at ۲ݮƵ University. The institute supports over 500 researchers, nearly 1,000 graduate and post-doctoral students, and operates more than 300 laboratories devoted to a broad spectrum of fundamental and clinical research. The Research Institute operates at the forefront of knowledge, innovation and technology and is inextricably linked to the clinical programs of the MUHC, ensuring that patients benefit directly from the latest research-based knowledge. For further details visit: .

The ۲ݮƵ University Health Centre (MUHC) is a comprehensive academic health institution with an international reputation for excellence in clinical programs, research and teaching. The MUHC is a merger of five teaching hospitals affiliated with the Faculty of Medicine at ۲ݮƵ University — the Montreal Children’s, Montreal General, Royal Victoria, and Montreal Neurological Institute and Hospital, as well as the Montreal Chest Institute. Building on the tradition of medical leadership of the founding hospitals, the goal of the MUHC is to provide patient care based on the most advanced knowledge in the health care field, and to contribute to the development of new knowledge.

Génome Québec has the mission to mobilize academic and industrial sectors with regard to genomics and proteomics research. This private non-profit organization invests and manages funds totalling over $380 million from both the private and public sectors. Génome Québec presently manages projects in six major sectors, that of human health, bioinformatics, ethics, the environment, forestry and agricultural sciences. For more details on Génome Québec and genomics, visit our website at: .

Genome Canada is a private, non-profit corporation, and the primary funding and information source relating to genomics and proteomics in Canada. Its principal goal is to enable Canada to become a world leader in genomics and proteomics research. Its mandate is to develop and implement a national strategy in genomics and proteomics research for the benefit of all Canadians. For this purpose, it has received $600 million in funding from the Canadian government and co-funding from other partners, allowing it to invest a total of $1.4 billion in 115 innovative research projects and technology platforms. To learn more about Genome Canada, please visit our website at .

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