Tuberous sclerosis complex (TSC) is a multisystem genetic disorder with severe neurologic manifestations, including epilepsy, autism, anxiety and attention deficit hyperactivity disorder. TSC is caused by the loss of either the TSC1 or TSC2 genes that normally regulate the mammalian target of rapamycin (mTOR) kinase. mTOR exists within two distinct complexes, mTOR complex 1 (mTORC1) and mTOR complex 2 (mTORC2).
View Article and Find Full Text PDFTuberous sclerosis complex (TSC) is a genetic disease with severe neurologic and psychiatric manifestations including epilepsy, developmental delay, and autism. Despite much progress in defining abnormal signaling pathways including the contribution of increased mTORC1 signaling, specific abnormalities that underlie the severe neurologic features in TSC remain poorly understood. We hypothesized that epilepsy and autism in TSC result from abnormalities of γ-aminobutyric acidergic (GABAergic) interneurons.
View Article and Find Full Text PDFTuberous Sclerosis Complex (TSC) is a multiorgan genetic disease that prominently features brain malformations (tubers) with many patients suffering from epilepsy and autism. These malformations typically exhibit neuronal as well as glial cell abnormalities and likely underlie much of the neurological morbidity seen in TSC. Tuber pathogenesis remains poorly understood though upregulation of the mTORC1 signaling pathway in TSC has been consistently demonstrated.
View Article and Find Full Text PDFThe optical characteristics of any lens are determined by its internal composition, size and shape. In the lens of the eye, the macroscopic form of the tissue reflects the arrangement and behaviour of its component cells. In the current study, we quantified changes in the morphology and organization of chicken lens fibre cells during embryonic development.
View Article and Find Full Text PDFThis study was undertaken to determine the effects of continuous corticosterone administration on lymphocyte subsets in the peripheral blood of Fischer 344 rats. Pellets which released corticosterone over a 21 day period (0.07 mg/day, 0.
View Article and Find Full Text PDF