Virology News


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

Zhang et al, 2018, Cell 172, 952–965.

https://doi.org/10.1016/j.cell.2018.02.019


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.