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> Discovery of rare disorder's cause may benefit many
Discovery of rare disorder's cause may benefit many
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Michel Leroux, 604.268.6683, 604.291.5785, leroux@sfu.ca
Carol Thorbes, SFU Media & PR(until July 29) 604.291.3035, cthorbes@sfu.ca
Kathryn Aberle, SFU Media & PR (after July 29) 604.291.3929,kaaberle@sfu.ca
CIHR Media Relations, 613.941.4563, mediarelations@cihr-irsc.gc.ca
Michel Leroux, 604.268.6683, 604.291.5785, leroux@sfu.ca
Carol Thorbes, SFU Media & PR(until July 29) 604.291.3035, cthorbes@sfu.ca
Kathryn Aberle, SFU Media & PR (after July 29) 604.291.3929,kaaberle@sfu.ca
CIHR Media Relations, 613.941.4563, mediarelations@cihr-irsc.gc.ca
July 28, 2005
Two Simon Fraser University molecular biologists have helped isolate the cause of a potentially fatal rare disease with symptoms that are prevalent in the general population. Working with scientists at the University of California, professor Michel Leroux and post-doctoral fellow Oliver Blacque have discovered what molecular defects in primary cilia cause Bardet-Biedl Syndrome (BBS).
Complex hereditary disease
The team's groundbreaking findings, published in the July 28, 2005 issue of the prestigious science journal Nature, “make the link between normal cilia function and health highly pertinent,” notes Leroux. “BBS patients suffer from an unusually large number of different ailments.” Obesity, blindness and kidney dysfunction are common illnesses that characterize BBS, a complex, hereditary disease that affects one in 160,000 people worldwide.
Primary cilia are solitary appendages, meaning there is one per cell. They enable cells to sense chemical or physical activities in their external environment. Cilia are involved in seeing, smelling, hearing, touching, and moving fluids-for example, clearing mucous from the respiratory tract. “Some proteins linked to cilia function are essential to life,” says Leroux.
Worm experiment key to breakthrough
Having verified in previous research that BBS genes function in cilia, Leroux and his colleagues recently disrupted or mutated BBS genes in C. elegans. The tiny nematode has virtually the same genome as humans, but 30 times smaller. “Cilia act to sense the environment in C. elegans,” explains Leroux. “We used attractants to test and compare the ability of C. elegans with normal and mutated BBS genes to smell their environment. We found those lacking BBS gene function have a greatly reduced sense of smell.”
This new research indicates that mutated BBS genes cause cilia to partially malfunction because a key role of these genes is to coordinate the function of molecular motors known as kinesins. Like trains engines, they move cargo-such as different cilia components-up to the tips of cilia.
“This exciting discovery into such a rare and hereditary disease could open new research avenues to understanding other diseases affecting Canadians,” says Rod McInnes, science director of the Canadian Institutes of Health Research's (CIHR) institute of genetics. A federal, health-related research funding agency, CIHR has contributed about $750,000 to Leroux's research.
-30-
(electronic photo available)
Websites:
SFU Molecular Biology & Biochemistry: www.sfu.ca/~leroux
Can Institute of Health Research: www.cihr-irsc.gc.ca
Complex hereditary disease
The team's groundbreaking findings, published in the July 28, 2005 issue of the prestigious science journal Nature, “make the link between normal cilia function and health highly pertinent,” notes Leroux. “BBS patients suffer from an unusually large number of different ailments.” Obesity, blindness and kidney dysfunction are common illnesses that characterize BBS, a complex, hereditary disease that affects one in 160,000 people worldwide.
Primary cilia are solitary appendages, meaning there is one per cell. They enable cells to sense chemical or physical activities in their external environment. Cilia are involved in seeing, smelling, hearing, touching, and moving fluids-for example, clearing mucous from the respiratory tract. “Some proteins linked to cilia function are essential to life,” says Leroux.
Worm experiment key to breakthrough
Having verified in previous research that BBS genes function in cilia, Leroux and his colleagues recently disrupted or mutated BBS genes in C. elegans. The tiny nematode has virtually the same genome as humans, but 30 times smaller. “Cilia act to sense the environment in C. elegans,” explains Leroux. “We used attractants to test and compare the ability of C. elegans with normal and mutated BBS genes to smell their environment. We found those lacking BBS gene function have a greatly reduced sense of smell.”
This new research indicates that mutated BBS genes cause cilia to partially malfunction because a key role of these genes is to coordinate the function of molecular motors known as kinesins. Like trains engines, they move cargo-such as different cilia components-up to the tips of cilia.
“This exciting discovery into such a rare and hereditary disease could open new research avenues to understanding other diseases affecting Canadians,” says Rod McInnes, science director of the Canadian Institutes of Health Research's (CIHR) institute of genetics. A federal, health-related research funding agency, CIHR has contributed about $750,000 to Leroux's research.
-30-
(electronic photo available)
Websites:
SFU Molecular Biology & Biochemistry: www.sfu.ca/~leroux
Can Institute of Health Research: www.cihr-irsc.gc.ca