Monday, April 7, 2014

role of TPI gene in cancers

OROSZ et al:
"One of these, triosephosphate isomerase (TPI) deficiency, is unique among the glycolytic enzyme defects since it is associated with progressive neurological dysfunction and frequently with childhood death. The physiological function of TPI is to adjust the rapid equilibrium between dihydroxyacetone phosphate and glyceraldehyde-3-phosphate produced by aldolase in glycolysis, which is interconnected to the pentose phosphate pathway and to lipid metabolism via triosephosphates."

*SABiosciences Regulatory transcription factor binding sites in the TPI1 gene promoter:
         c-Fos   PPAR-gamma1   AP-1   ATF-2   PPAR-gamma2   c-Jun   c-Ets-1 
         Other transcription factors

*development of Giardiasis is a potent sign of this disturbance
*Is TPI involved in salivary gland cancers
*does supplying G3P +DHAP resulting product correct this disease?
*what is the expression of REB1,RAP1,GCR1 in salivary gland cancers?
stephens et al: on Adenoid Cystic Cancer ( fusions of the MYB-NFIB genes)
"We identified multiple mutated genes that, combined, implicate chromatin deregulation in half of cases. Further, mutations were identified in known cancer genes, including PIK3CA, ATM, CDKN2A, SF3B1, SUFU, TSC1, and CYLD. Mutations in NOTCH1/2 were identified in 3 cases, and we identify the negative NOTCH signaling regulator, SPEN, as a new cancer gene in ACC with mutations in 5 cases. Finally, the identification of 3 likely activating mutations in the tyrosine kinase receptor FGFR2, analogous to those reported in ovarian and endometrial carcinoma, point to potential therapeutic avenues for a subset of cases."

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