Premature cognitive decline in a mouse model of tuberous sclerosis

Aging Cell. 2024 Dec;23(12):e14318. doi: 10.1111/acel.14318. Epub 2024 Aug 27.

Abstract

Little is known about the influence of (impaired) neurodevelopment on cognitive aging. We here used a mouse model for tuberous sclerosis (TS) carrying a heterozygous deletion of the Tsc2 gene. Loss of Tsc2 function leads to mTOR hyperactivity in mice and patients. In a longitudinal behavioral analysis, we found premature decline of hippocampus-based cognitive functions together with a significant reduction of immediate early gene (IEG) expression. While we did not detect any morphological changes of hippocampal projections and synaptic contacts, molecular markers of neurodegeneration were increased and the mTOR signaling cascade was downregulated in hippocampal synaptosomes. Injection of IGF2, a molecule that induces mTOR signaling, could fully rescue cognitive impairment and IEG expression in aging Tsc2+/- animals. This data suggests that TS is an exhausting disease that causes erosion of the mTOR pathway over time and IGF2 is a promising avenue for treating age-related degeneration in mTORopathies.

Keywords: IGF2; aging; mTOR; neurodegeneration; premature cognitive decline; rescue.

MeSH terms

  • Animals
  • Cognitive Dysfunction / genetics
  • Cognitive Dysfunction / metabolism
  • Cognitive Dysfunction / pathology
  • Disease Models, Animal*
  • Hippocampus / metabolism
  • Hippocampus / pathology
  • Humans
  • Insulin-Like Growth Factor II / genetics
  • Insulin-Like Growth Factor II / metabolism
  • Male
  • Mice
  • Signal Transduction
  • TOR Serine-Threonine Kinases / metabolism
  • Tuberous Sclerosis Complex 2 Protein / genetics
  • Tuberous Sclerosis Complex 2 Protein / metabolism
  • Tuberous Sclerosis* / complications
  • Tuberous Sclerosis* / genetics
  • Tuberous Sclerosis* / metabolism
  • Tuberous Sclerosis* / pathology
  • Tumor Suppressor Proteins / genetics
  • Tumor Suppressor Proteins / metabolism

Substances

  • TOR Serine-Threonine Kinases
  • Insulin-Like Growth Factor II
  • Tuberous Sclerosis Complex 2 Protein
  • Tsc2 protein, mouse
  • IGF2 protein, mouse
  • Tumor Suppressor Proteins