- A gene may protect people against variant
- People who lack a gene involved in immune responses may
be three times more likely to suffer from variant Creutzfeldt-Jakob disease
(vCJD), a new study suggests. The result, if borne out in larger studies,
could point researchers toward therapies for the incurable brain
- vCJD is thought to occur when people are exposed to
prion proteins from cows with bovine spongiform encephalopathy - BSE or
'mad cow disease'. The gene does not appear to protect against the sporadic
form of the disease (CJD).
- Of 50 patients with vCJD - about half of those known
to have the disease - only 12% have a gene called DQ7, John Collinge of
Imperial College School of Medicine in London and his colleagues have
In contrast, 36% of the normal population has the gene.
- The small number of participants makes it difficult to
draw conclusions from the study, experts warn. "These kinds of studies
are very susceptible to false positive findings," says Cornelia van
Duijn, a genetic epidemiologist at Erasmus University Medical School in
- But, by shedding light on susceptibility to the disease,
the study could improve estimates of how many people will develop it, van
- It would take something like 500 patients - many more
than have been diagnosed - to get truly reliable findings, says Stephen
O'Brien, a geneticist at that US National Cancer Institute in Maryland.
Nonetheless, he says, "the results are provocative and make us want
to know if they're right".
- It would be good to test a larger sample, agrees
- Although the findings do not point to any immediate
for the disease they could help researchers looking for treatments.
we can understand why DQ7 is important in protecting against vCJD, it might
open up new avenues to treatment," Collinge says.
- 1. Jackson, G. S. et al. HLA-DQ7 antigen and resistance
to variant CJD. Nature, 414, 269 - 270, (2001).
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