Human SNORA31 variations impair cortical neuron-intrinsic immunity to HSV-1 and underlie herpes simplex encephalitis

Nat Med. 2019 Dec;25(12):1873-1884. doi: 10.1038/s41591-019-0672-3. Epub 2019 Dec 5.

Abstract

Herpes simplex virus-1 (HSV-1) encephalitis (HSE) is typically sporadic. Inborn errors of TLR3- and DBR1-mediated central nervous system cell-intrinsic immunity can account for forebrain and brainstem HSE, respectively. We report five unrelated patients with forebrain HSE, each heterozygous for one of four rare variants of SNORA31, encoding a small nucleolar RNA of the H/ACA class that are predicted to direct the isomerization of uridine residues to pseudouridine in small nuclear RNA and ribosomal RNA. We show that CRISPR/Cas9-introduced bi- and monoallelic SNORA31 deletions render human pluripotent stem cell (hPSC)-derived cortical neurons susceptible to HSV-1. Accordingly, SNORA31-mutated patient hPSC-derived cortical neurons are susceptible to HSV-1, like those from TLR3- or STAT1-deficient patients. Exogenous interferon (IFN)-β renders SNORA31- and TLR3- but not STAT1-mutated neurons resistant to HSV-1. Finally, transcriptome analysis of SNORA31-mutated neurons revealed normal responses to TLR3 and IFN-α/β stimulation but abnormal responses to HSV-1. Human SNORA31 thus controls central nervous system neuron-intrinsic immunity to HSV-1 by a distinctive mechanism.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Central Nervous System / immunology
  • Central Nervous System / virology
  • Child, Preschool
  • Encephalitis, Herpes Simplex / genetics*
  • Encephalitis, Herpes Simplex / immunology
  • Encephalitis, Herpes Simplex / pathology
  • Encephalitis, Herpes Simplex / virology
  • Female
  • Genetic Predisposition to Disease
  • Herpesvirus 1, Human / genetics*
  • Herpesvirus 1, Human / immunology
  • Herpesvirus 1, Human / pathogenicity
  • Humans
  • Immunity / genetics
  • Infant
  • Male
  • Metagenome / genetics
  • Metagenome / immunology
  • Middle Aged
  • Neurons / immunology*
  • Neurons / virology
  • RNA, Small Nucleolar / genetics*
  • RNA, Small Nucleolar / immunology

Substances

  • RNA, Small Nucleolar