Brain malformations and seizures by impaired chaperonin function of TRiC

Science. 2024 Nov;386(6721):516-525. doi: 10.1126/science.adp8721. Epub 2024 Oct 31.

Abstract

Malformations of the brain are common and vary in severity, from negligible to potentially fatal. Their causes have not been fully elucidated. Here, we report pathogenic variants in the core protein-folding machinery TRiC/CCT in individuals with brain malformations, intellectual disability, and seizures. The chaperonin TRiC is an obligate hetero-oligomer, and we identify variants in seven of its eight subunits, all of which impair function or assembly through different mechanisms. Transcriptome and proteome analyses of patient-derived fibroblasts demonstrate the various consequences of TRiC impairment. The results reveal an unexpected and potentially widespread role for protein folding in the development of the central nervous system and define a disease spectrum of "TRiCopathies."

MeSH terms

  • Brain* / metabolism
  • Chaperonin Containing TCP-1* / genetics
  • Chaperonin Containing TCP-1* / metabolism
  • Female
  • Fibroblasts / metabolism
  • Humans
  • Intellectual Disability / genetics
  • Intellectual Disability / metabolism
  • Male
  • Protein Folding*
  • Protein Subunits / genetics
  • Protein Subunits / metabolism
  • Proteome / metabolism
  • Seizures* / genetics
  • Seizures* / metabolism
  • Transcriptome

Substances

  • Chaperonin Containing TCP-1
  • Protein Subunits
  • Proteome