TSC1 or TSC2
mutation has been regarded as an independent criterion for the diagnosis or prediction of TSC, regardless of the clinical findings.
The NF1 tumor suppressor critically regulates TSC2
Loss of heterozygosity at 16p13, the chromosomal region containing the TSC2
gene, has been described in sporadic and tuberous sclerosis-associated PEComas.
In tuberous sclerosis which has an autosomal dominant inheritance, mutations in the TSC1 (Tuberous sclerosis complex 1) and TSC2
(Tuberous sclerosis complex 2) genes lead to involvement of hamartin and tuberin proteins which are products of these genes.
It has been demonstrated that the insulin-activated kinase Akt phosphorylates TSC2
at distinct sites from those specific for AMPK, blocking its RHEB-GAP function [36, 43, 44], and also phosphorylates proline-rich Akt substrate of 40 kDa (PRAS40), enhancing its inhibitory effect on the mTORC1 complex .
Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder resulting from mutations in the TSC1 gene or the TSC2
La formacion de estos complejos es dependiente de la proteina de esclerosis tuberosa 1 (TSC1) que se asocia con TSC2
formando un complejo que inhibe la actividad de mTORC1 al disminuir la union de la GTPasa RHEB a GTP (54).
2 % CMC) did not exerted any effect on gel syneresis, however syneresis was found to be reduced by incorporation of TSC2
Definitive diagnosis of TSC is made by the identification of TSC1 or TSC2
genetic mutations, especially in the presence of major or minor clinical features (Northrup & Krueger, 2013).
6] Human genes: EGFR, epidermal growth factor receptor; KRAS, Kirsten rat sarcoma viral oncogene homolog; TP53, tumor protein p53; NF2, neurofibromin 2 (merlin); AKT1, v-akt murine thymoma viral oncogene homolog 1; BRAF, B-Raf proto-oncogene, serine/ threonine kinase; NRAS, neuroblastoma RAS viral (v-ras) oncogene homolog; KMT2D, lysine (K)-specific methyltransferase 2D; NSD1, nuclear receptor binding SET domain protein 1; CREB3L1, cAMP responsive element binding protein 3-like 1; TPR, translocated promoter region, nuclear basket protein; TSC2
, tuberous sclerosis 2.
For example, under nutrient starvation and low ATP conditions, AMPK phosphorylates a number of autophagy-related proteins including ULK1 and the mTORC1 regulators, TSC2
and RAPTOR (Tait and Green 2012).
9 kb to 644 kb) were identified via use of STAC algorithm, including losses of FGFR3, RECQL4, NOTCH1, PTEN, TSC2
, and/or ASPSCR1 and gains of ETV1and/or MAF.