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Brain inflammation–encephalitis–in children linked to single gene mutation

For most children, an infection with a virus like herpes simplex or influenza (the flu) will cause the typical symptoms and run its course. But, for about one out in every 10,000 people who are exposed to these common viruses, a potentially deadly disease, encephalitis, develops. Encephalitis, inflammation of the brain, is caused by the viruses ability to invade the brainstem. But, why does this happen to a small subset of otherwise healthy children?

[The Casanova lab] studied seven children from unrelated families who had been exposed to a common virus (herpes simplex virus 1, influenza virus, or norovirus) and developed a life-threatening or lethal infection of the brain stem. In doing so, they identified mutations in a single gene that may explain what goes wrong in cases of encephalitis of the brain stem. The gene that the patients had mutations in is called DBR1.

The researchers found that fibroblasts of these DBR1-mutated patients contain higher RNA lariat levels than control cells.

[T]he link between a basic RNA processing mechanism and immunity in the brain is a leap that is not normally made. Unexpected discoveries like this don’t come along every day. But, when they do, they remind us of why basic research is so important and, quite frankly, so incredibly cool.

Read full, original post: An Unexpected Gene Important In Brain Infection

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