Regionally specific TSC1 and TSC2 gene expression in tuberous sclerosis complex
| العنوان: | Regionally specific TSC1 and TSC2 gene expression in tuberous sclerosis complex |
|---|---|
| المؤلفون: | Rahul S. Desikan, Jennifer S. Yokoyama, Nicholas J. Schmansky, Daniel Cuneo, William P. Dillon, Chun Chieh Fan, Matthew J. Barkovich, Ryan M. Nillo, Yi Li, Bruce L. Miller, Celeste M. Karch, Chin Hong Tan, Christopher P. Hess, Nicholas T. Olney, Ole A. Andreassen, Luke W. Bonham, Iris J. Broce, Terry L. Jernigan, Christine M. Glastonbury, A. James Barkovich, Leo P. Sugrue, Anders M. Dale, Aimee W. Kao, Orit A. Glenn, Bruce Fischl |
| المصدر: | Scientific Reports, Vol 8, Iss 1, Pp 1-10 (2018) Scientific reports, vol 8, iss 1 Scientific Reports Li, Y; Barkovich, MJ; Karch, CM; Nillo, RM; Fan, CC; Broce, IJ; et al.(2018). Regionally specific TSC1 and TSC2 gene expression in tuberous sclerosis complex. Scientific Reports, 8(1). doi: 10.1038/s41598-018-31075-4. UCSF: Retrieved from: http://www.escholarship.org/uc/item/3m61c5mtTest Li, Yi; Barkovich, Matthew J; Karch, Celeste M; Nillo, Ryan M; Fan, Chun-Chieh; Broce, Iris J; et al.(2018). Regionally specific TSC1 and TSC2 gene expression in tuberous sclerosis complex. Scientific Reports, 8(1). doi: 10.1038/s41598-018-31075-4. UCSF: UCSF Library. Retrieved from: http://www.escholarship.org/uc/item/4zk6w74dTest |
| بيانات النشر: | Nature Publishing Group, 2018. |
| سنة النشر: | 2018 |
| مصطلحات موضوعية: | 0301 basic medicine, Male, Cerebellum, Autism, lcsh:Medicine, Tuberous Sclerosis Complex 1 Protein, Tuberous sclerosis, 0302 clinical medicine, Neurodevelopmental disorder, Tuberous Sclerosis, Medicine and Health Sciences, 80 and over, 2.1 Biological and endogenous factors, Aetiology, Child, lcsh:Science, Cancer, Aged, 80 and over, Regulation of gene expression, Pediatric, education.field_of_study, Multidisciplinary, Life Sciences, Middle Aged, Gene Expression Regulation, Neoplastic, medicine.anatomical_structure, Mental Health, Child, Preschool, Neurological, Female, Adult, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, Intellectual and Developmental Disabilities (IDD), Population, Biology, Article, 03 medical and health sciences, Rare Diseases, Clinical Research, Tuberous Sclerosis Complex 2 Protein, medicine, Genetics, Humans, education, Preschool, PI3K/AKT/mTOR pathway, Aged, Neoplastic, lcsh:R, Infant, Newborn, Neurosciences, Infant, medicine.disease, Newborn, Brain Disorders, nervous system diseases, 030104 developmental biology, Gene Expression Regulation, Neurodevelopmental Disorders, Cancer research, lcsh:Q, TSC1, TSC2, 030217 neurology & neurosurgery |
| الوصف: | Tuberous sclerosis complex (TSC), a heritable neurodevelopmental disorder, is caused by mutations in the TSC1 or TSC2 genes. To date, there has been little work to elucidate regional TSC1 and TSC2 gene expression within the human brain, how it changes with age, and how it may influence disease. Using a publicly available microarray dataset, we found that TSC1 and TSC2 gene expression was highest within the adult neo-cerebellum and that this pattern of increased cerebellar expression was maintained throughout postnatal development. During mid-gestational fetal development, however, TSC1 and TSC2 expression was highest in the cortical plate. Using a bioinformatics approach to explore protein and genetic interactions, we confirmed extensive connections between TSC1/TSC2 and the other genes that comprise the mammalian target of rapamycin (mTOR) pathway, and show that the mTOR pathway genes with the highest connectivity are also selectively expressed within the cerebellum. Finally, compared to age-matched controls, we found increased cerebellar volumes in pediatric TSC patients without current exposure to antiepileptic drugs. Considered together, these findings suggest that the cerebellum may play a central role in TSC pathogenesis and may contribute to the cognitive impairment, including the high incidence of autism spectrum disorder, observed in the TSC population. |
| وصف الملف: | application/pdf |
| اللغة: | English |
| تدمد: | 2045-2322 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c58087a886c9e4b80987e421701bd79Test http://link.springer.com/article/10.1038/s41598-018-31075-4Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....5c58087a886c9e4b80987e421701bd79 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 20452322 |
|---|