Biallelic TSC gene inactivation in tuberous sclerosis complex
نویسندگان
چکیده
منابع مشابه
Tuberous sclerosis complex (TSC) gene involvement in sporadic tumours.
In tuberous sclerosis patients, inactivation of the tuberous sclerosis complex tumour-suppressor genes TSC1 and TSC2 contributes to the development of a wide range of hamartomatous lesions. These patients do not, however, show an increased risk of the common adult solid cancers. Recent evidence that the TSC genes play a role in the phosphoinositide 3-kinase pathway, a pathway whose dysregulatio...
متن کاملSubependymal giant cell astrocytomas in Tuberous Sclerosis Complex have consistent TSC1/TSC2 biallelic inactivation, and no BRAF mutations
Subependymal giant cell astrocytomas (SEGAs) are rare, low-grade glioneuronal brain tumors that occur almost exclusively in patients with tuberous sclerosis complex (TSC). Though histologically benign, SEGAs can lead to serious neurological complications, including hydrocephalus, intractable seizures and death. Previous studies in a limited number of SEGAs have provided evidence for a biallelic...
متن کاملTuberous sclerosis complex inactivation disrupts melanogenesis via mTORC1 activation.
Tuberous sclerosis complex (TSC) is an autosomal dominant tumor-suppressor gene syndrome caused by inactivating mutations in either TSC1 or TSC2, and the TSC protein complex is an essential regulator of mTOR complex 1 (mTORC1). Patients with TSC develop hypomelanotic macules (white spots), but the molecular mechanisms underlying their formation are not fully characterized. Using human primary m...
متن کاملTherapeutic Trial of Metformin and Bortezomib in a Mouse Model of Tuberous Sclerosis Complex (TSC)
Tuberous sclerosis complex (TSC) is a human genetic disorder in which loss of either TSC1 or TSC2 leads to development of hamartoma lesions, which can progress and be life-threatening or fatal. The TSC1/TSC2 protein complex regulates the state of activation of mTORC1. Tsc2(+/-) mice develop renal cystadenoma lesions which grow progressively. Both bortezomib and metformin have been proposed as p...
متن کاملTuber or Not Tuber: The Question of Epileptogenic Lesions in Tuberous Sclerosis Complex (TSC).
Commentary In any form of epilepsy associated with distinct anatomical le-sions within the brain, questions arise as to whether the lesional tissue alone is epileptogenic, whether perilesional cortex is also epileptogenic, or whether even more remote cortical regions that appear structurally normal may serve as independent epileptic foci. In disorders associated with multiple distinct lesions, ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Neurology
سال: 2010
ISSN: 0028-3878,1526-632X
DOI: 10.1212/wnl.0b013e3181e04325