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Wednesday, 14 November, 2001, 19:12 GMT
'Missing gene increases CJD risk'
Gene, BBC
Investigators studied the genes of people with vCJD
People who lack a particular version of a gene involved in immune responses may be three times more likely to suffer new-variant Creutzfeldt-Jakob disease (vCJD), research suggests.

If the finding is borne out in larger studies, it could provide scientists with an important clue in their bid to develop therapies for the incurable brain disease.

It may also help doctors to identify those people at risk. And it may lead to a more practical way to diagnose the condition.

If we could identify a combination of say six markers then it might be possible to introduce mass screening for susceptibility to vCJD

Dr Graham Jackson
At present, a positive diagnosis can be achieved by analysing a tissue taken from the tonsils. This discovery paves the way for a simple blood test.

The gene, called DQ7, is part of a complex called HLA that produces molecules responsible for presenting bits of proteins to the immune system.

It does not seem to offer protection against the sporadic form of the disease, in which rogue particles called prions are thought to form spontaneously in the brain.

But it does appear to play a role in people who develop the disease after eating prions contained in BSE-contaminated meat.


The researchers studied the genetic makeup of 50 patients with vCJD, approximately half of the population known to have the disease.

Only 12% of the patients possessed the DQ7 gene, compared with 36% of the normal population.

The research was carried out by a team from the UK's Medical Research Council Prion Unit at the Institute of Neurology led by Professor John Collinge.

Writing in the journal Nature, they said: "Our results suggest that the presence of DQ7 protects against vCJD."

However, they warn that although they studied about half of all the people known to have contracted vCJD, their sample is still too small to be conclusive.

"As with a more prevalent disease, these data should be confirmed on a much larger group of patients, although this is not possible for VCJD at present."

Dr Graham Jackson, a member of Professor Collinge's team, told BBC News Online: "This is the first time that anyone has identified a genetic susceptibility outside of the prion protein gene itself.

"The strong likelihood is that other genes are also involved.

"If we could identify a combination of say six markers then it might be possible to introduce mass screening for susceptibility to vCJD."

See also:

26 Oct 01 | Health
vCJD 'epidemic' might be waning
13 Aug 01 | Health
Hope for vCJD cure
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