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Motion that powers sperm provides key to unravelling rare genetic disorder

Malfunction of the motor that powers sperm plays havoc with more than fertility: it may also be the root cause of the rare genetic disease Bardet-Biedl syndrome (BBS).

Reporting in the journal Cell tomorrow, researchers from the UK, US and Canada reveal they have discovered a novel gene for BBS that's necessary for the generation of a cell's cilia and flagella hair like tentacles used to propel a cell or sweep substances over their exterior.

Cilia and flagella are commonly known as the cellular mechanism used to remove mucus from the lungs or power the wave like motion behind sperm, but they also function as part of a cell's communication device.

Now the team have shown mutations in a gene called BBS5 appears to be responsible for the generation of cilia and flagella and are involved in the development of BBS a recessive disease that affects one in around 100,000 births in the UK.

The first obvious symptom of BBS is children are born with extra fingers or toes but sufferers go on to dramatically gain weight, lose their eye sight and develop kidney problems. Half of individuals also exhibit some degree of learning difficulties.

To date, seven other genes have been linked to BBS, and six of them have been studied in depth and cloned. However, only one other gene has been linked to a cellular problem that could result in the condition.

The results of the study confirm that BBS is caused by defects in cilia, a theory first proposed by Dr Philip Beales of UCL's Institute of Child Health, one of the study's principle investigators.

"Cilia and flagella have long been thought to play a fundamental role in the development of many organisms including humans," explains Dr Beales.

"Here we confirm the role they play in Bardet-Biedl syndrome, but it's clear their malfunction is linked to a number of health problems such as obesity, kidney disease, blindness and mental retardation."

"The way some cilia wo
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Contact: Judith H Moore
judith.moore@ucl.ac.uk
44-0-20-7679-7678
University College London
13-May-2004


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