( hospital in Paris and genetic epidemiol...)Inheriting a tendency to brain infection

hospital in Paris and genetic epidemiologist Laurent Abel of the Necker Medical School, revealed that a significant proportion of patients with herpes simplex encephalitis had parents who were blood relatives --often first or second cousins--and were therefore at higher than normal risk of inheriting two copies of a faulty gene.

In 2005, Casanova later identified a 15-year-old boy who developed brain damage due to herpes simplex infection. Casanova found that the boy's blood cells failed to produce an important immune signalling molecule, type I interferon, when challenged with the virus in a laboratory flask.

At about the same time, Bruce Beutler of the Scripps Research Institute in La Jolla, California created a mutant mouse that did not respond to certain molecules that normally trigger cells to produce type I interferon. The mouse turned out to be vulnerable to a range of infections, but its susceptibility to herpes simplex had not been tested. "Nevertheless," said Casanova, "the immunological abnormality perfectly matched that found in our patient."

Beutler's mouse carried a mutation in a gene called unc93b. The French team sequenced the human counterpart, unc93b1, and found that their patient carried two mutated copies of this gene. In early 2006, they found a second, unrelated patient who had also inherited two mutated copies of the gene--although the mutation in her case was different. She had survived two episodes of the disease, which had left her partially paralysed and mildly mentally retarded.

The link between interferon production and the disease suggests a new strategy for treatment, Casanova said. "It's like giving insulin to a diabetic patient," he said. "You just replace the missing compound."

Soon, children who come into the intensive care unit with herpes simplex encephalitis may be treated with both the standard antiviral, acyclovir, and with type I interferon, to replace the interferon they lack if
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Source:Howard Hughes Medical Institute

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