Shared Etiology in Autism Spectrum Disorder and Epilepsy with Functional Disability

Figure 2

PI3K/AKT/mTOR pathway. Receptor tyrosine kinase activates the mTOR pathway. Hyperactivation of mTOR1 occurs due to TSC1/2 mutations. Downstream signaling pathway results in lipid and protein synthesis, ribosome biosynthesize, and autophagy. Similarly, mTOR2 downstream signals to lipid and glucose metabolism and cytoskeleton organization which accelerated cell division, proliferation, and irregular gene expression that exemplify TSC; RTKs: receptor tyrosine kinase; PDGFR: plate-let-derived growth factor receptor; KIT: protooncogene receptor; IGFR: insulin-like growth factor receptor; mTOR: mammalian target of rapamycin; PI3K: phosphatidylinositol 3-kinase; PTEN: phosphatase and tensin homologue deleted on chromosome 10; RHEB: Ras homologue a small GTP-binding protein enriched in the brain; TSC: tuberous sclerosis.