Expression of expanded GGC repeats within NOTCH2NLC causes behavioral deficits and neurodegeneration in a mouse model of neuronal intranuclear inclusion disease

Sci Adv. 2022 Nov 25;8(47):eadd6391. doi: 10.1126/sciadv.add6391. Epub 2022 Nov 23.

Abstract

GGC repeat expansions within NOTCH2NLC have been identified as the genetic cause of neuronal intranuclear inclusion disease (NIID). To understand the molecular pathogenesis of NIID, here, we established both a transgenic mouse model and a human neural progenitor cells (hNPCs) model. Expression of the NOTCH2NLC with expanded GGC repeats produced widespread intranuclear and perinuclear polyglycine (polyG), polyalanine (polyA), and polyarginine (polyR) inclusions, leading to behavioral deficits and severe neurodegeneration, which faithfully mimicked the clinical and pathological features associated with NIID. Furthermore, conserved alternative splicing events were identified between the NIID mouse and hNPC models, among which was the enrichment of the binding motifs of hnRNPM, an RNA binding protein known as alternative splicing regulator. Expanded NOTCH2NLC-polyG and NOTCH2NLC-polyA could interact with and sequester hnRNPM, while overexpression of hnRNPM could ameliorate the cellular toxicity. These results together suggested that dysfunction of hnRNPM could play an important role in the molecular pathogenesis of NIID.

MeSH terms

  • Animals
  • Disease Models, Animal
  • Humans
  • Intranuclear Inclusion Bodies* / genetics
  • Intranuclear Inclusion Bodies* / pathology
  • Mice
  • Neurodegenerative Diseases* / genetics
  • RNA-Binding Proteins

Substances

  • RNA-Binding Proteins
  • Notch2 protein, mouse

Supplementary concepts

  • Neuronal intranuclear inclusion disease