Tuberous Sclerosis Complex (TSC) Inactivation Increases Neuronal Network Activity by Enhancing Ca²⁺ Influx via L-Type Ca²⁺ Channels.

ABSTRACT: Tuberous sclerosis complex (TSC) is a multisystem developmental disorder characterized by hamartomas in various organs, such as the brain, lungs, and kidneys. Epilepsy, along with autism and intellectual disability, is one of the neurologic impairments associated with TSC that has an intimate relationship with developmental outcomes and quality of life. Sustained activation of the mammalian target of rapamycin (mTOR) via TSC1 or TSC2 mutations is known to be involved in the onset of epilepsy in TSC. However, the mechanism by which mTOR causes seizures remains unknown. In this study, we showed that, human induced pluripotent stem cell-derived TSC2-deficient (TSC2 ^-/-) neurons exhibited elevated neuronal activity with highly synchronized Ca²⁺

SUBMITTER: Hisatsune C 

PROVIDER: S-EPMC8482857 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature