Virology News

Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection”.

Zhang et al, 2018, Cell 172, 952–965.

This paper describes familial mutations (seven patients in three pedigrees) in the DBR1 gene, which encodes debranching enzyme 1 which is the

only known RNA lariat-debranching enzyme in humans. The mutations might cause susceptibility to brain stem encephalitis caused by very different viruses such as HSV-1, Influenza B and norovirus. Presumably, altered splicing may lead to local immune defects in close compartments such as the brain stem.