mTORopathies

1. mTORopathies are associated with cellular senescence-associated gene expression in humans.

   “Downregulated genes were enriched in oxidative phosphorylation (OXPHOS) and mitochondrial metabolic pathways, whereas upregulated genes were associated with gliogenesis and cellular senescence.”

   HumansmTORopathy brains compared with controlsbrain

   Comprehensive transcriptomic and proteomic profiling of mTOR-related epilepsy

   bioRxiv (Cold Spring Harbor Laboratory)·11 Mar 2026Preprint

More on Cellular senescence-associated gene expression

1. mTORopathies are associated with gliogenesis-associated gene expression in humans.

   “Downregulated genes were enriched in oxidative phosphorylation (OXPHOS) and mitochondrial metabolic pathways, whereas upregulated genes were associated with gliogenesis and cellular senescence.”

   HumansmTORopathy brains compared with controlsbrain

   Comprehensive transcriptomic and proteomic profiling of mTOR-related epilepsy

   bioRxiv (Cold Spring Harbor Laboratory)·11 Mar 2026Preprint

More on Gliogenesis-associated gene expression

1. mTORopathies are associated with oxidative phosphorylation-related protein abundance in humans.

   “Proteomic profiling identified 44 differentially expressed proteins, including significant reductions in OXPHOS-related proteins (COX5B, NDUFS4, GOT2, RAB27B, and DKK3).”

   HumansmTORopathy brains compared with controlsbrain

   Comprehensive transcriptomic and proteomic profiling of mTOR-related epilepsy

   bioRxiv (Cold Spring Harbor Laboratory)·11 Mar 2026Preprint

More on Oxidative phosphorylation-related protein abundance