New gene discovery aids treatment of rare disease

Nov 13, 2003, vol. 28, no. 6
By Carol Thorbes



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A pair of researchers at Simon Fraser University has uncovered clues as to what causes a rare disease, whose traits are becoming increasingly common.

Michel Leroux's and Oliver Blacque's research could point the way to developing tests to screen for and correct cellular defects potentially linked to the development of obesity, kidney disease and learning disabilities.

Leroux, a professor, and Blacque, a post-doctoral fellow, are researchers in SFU's department of molecular biology and biochemistry.

The two recently published a paper in the science journal Nature in collaboration with their British and American colleagues' on the discovery of BBS8, the sixth gene linked to the development of Bardet-Biedl Syndrome (BBS).

It is a potentially fatal hereditary disease characterized by blindness, obesity, kidney dysfunction and learning disabilities.

Almost four years ago, SFU scientist Willie Davidson and one of his doctoral students, Mike Woods, helped another team of international scientists identify BBS6.

Leroux and Blacque helped discover the BBS8 gene codes for a protein that seems to operate specifically at the base of cilia, microscopic hairs projecting from certain cells.

Cilia are found on many important cells in simple and complex organisms, including humans.

They are known to act as appendages that propel cells through fluid or as small antennae that sense cells' surrounding environment, sniffing such things as chemicals and food, and warning of a threatening environment.

Leroux and Blacque made their discoveries while studying mammalian tissue and C. elegans, tiny worms.

They also found that three other BBS proteins (BBS1, 2 and 7) are turned on in C. elegans, but only in cells with cilia.

The SFU scientists have yet to work out exactly where these genes' proteins function within cilia.

The information they've gathered so far indicates that BBS8 (and perhaps the other BBS genes found only in cilia) makes cilia do something important.

The big question is what, and is that function linked to the development of a variety of conditions in BBS sufferers?

“Obesity and learning disabilities, found in BBS patients, have not yet been associated with a problem with cilia, which accounts for the novelty of this research,” notes Leroux. “It has been known for a long time that problems with cilia cause diseases. For example, kidney disease and retinal degeneration are associated with ciliary problems.”

Leroux and Blacque are interested in seeing what happens when BBS genes in C. elegans are disrupted.

“We're checking to see if the disruption causes some malfunction in the structure, shape or function of cilia,” explains Leroux.

“It'll take some time to uncover why defects in cilia can cause obesity, diabetes or learning difficulties in BBS patients. But establishing such a link could help doctors screen for and possibly correct these defects, not only in BBS patients but the growing number of people in the general population who suffer from some of BBS' common traits.”

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