It is estimated that worldwide about 1 in 100 children have autism spectrum disorder (ASD) and ASD has been associated with lipid abnormalities. Genetic disorders that are associated with ASD, such as fragile X syndrome, have also been frequently identified as having lipid abnormalities and have also been frequently associated with the Mammalian target of rapamycin (mTOR) signaling pathway. The mTor pathway is a central regulator of lipid metabolism.
This Collection focuses on the link between genetic disorders associated with ASD and how these the genetic disorders’ DNA variants may lead to modification of the mTor pathway function and lipid abnormalities.
The Collection will cover the following:
• How the mTOR pathway regulates lipid metabolism and, conversely, lipid levels regulate the mTOR pathway.
• The relationship of lipids to the central nervous system.
• The role of mTOR in the central nervous system.
• The relationship of brain-derived central nervous system growth factor factors, including brain-derived neurotrophic factor (BDNF) and lipid levels.
• The role of BDNF as a potent activator of mTOR and the effect of mTOR pathway changes on synaptic plasticity.
• Lipid abnormalities and altered mTOR pathway function in individuals who have ASD but no identified genetic disorder.
• ASD animal models with lipid alterations.
• ASD animal models with mTOR pathway alterations.
• The lipid abnormalities observed in individuals with Smith-Lemli-Opitz syndrome, Rett syndrome, CDKL5 syndrome, fragile X syndrome, tuberous sclerosis, neurofibromatosis, Angelman, Down syndrome and PTEN hamartoma tumor syndrome and their corresponding animal models.
• The mTOR pathway involvement in individuals with Smith-Lemli-Opitz syndrome, Rett syndrome, CDKL5 syndrome, fragile X syndrome, tuberous sclerosis, neurofibromatosis, Angelman, Down syndrome and PTEN hamartoma tumor syndrome and their corresponding animal models.
• The effect of mTOR inhibitor medications on lipid levels and autism-related deficits in individuals with genetic disorders associated with ASD.