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

FG Lafaille, O Harschnitz, YS Lee, P Zhang… - Nature medicine, 2019 - nature.com
FG Lafaille, O Harschnitz, YS Lee, P Zhang, ML Hasek, G Kerner, Y Itan, O Ewaleifoh…
Nature medicine, 2019nature.com
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 …
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.
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