Abnormal Cellular/Synaptic Growth Hypothesis
From Pheno Wiki
Abnormal Cellular/Synaptic Growth Hypothesis
This hypothesis came from studies of Tuberouse Schlerosis and Cowden/Lhermitte-Cuclos Syndromes where it was found that the two syndromes associate susceptibility to Autism Spectrum Disorders with macrocephaly. Macrocephaly is relatively common among ASD patients with an estimated prevalence rate of 20%.
Tuberouse Schlerosis and Cowden/Lhermitte-Cuclos Syndrome are caused by NF1, TSC1/TSC2, and PTEN. These proteins act as negative effectors of mTORC1, which is a major regulator of cellular growth in mitotic cells. It is thought that mutations enhance the MTORC1 complex which is activated by a sequential kinase cascade downstream of the phosphoinositide-3 kinase pathway. This pathway can be modulated by serotonin.1
