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Gene expression analysis in peripheral blood cells of patients with hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC): identification of NRF2 pathway activation

AbstractHereditary leiomyomatosis and renal cell cancer syndrome (HLRCC) is a very rare disease that is inherited in an autosomal dominant manner. Affected patients may develop from cutaneous and uterine leiomyomas to type 2 papillary renal cell carcinoma (Schmidt and Linehan, Int J Nephrol Renovasc Dis 7:253 –260, 2014). HLRCC is caused by germline mutations in theFH gene, which produces the fumarate hydratase protein that participates in the tricarboxylic acid cycle during the conversion of fumarate to malate. InFH-deficient cells, high concentrations of fumarate lead to a series of intricate events, which seem to be responsible for the malignant transformation (Yang et al., J Clin Invest 123(9):3652 –3658, 2013) (Bardella et al., J Pathol 225(1):4–11, 2011). Among these events, one that is gaining attention is the pathological activation of the nuclear factor erythroid 2-related factor 2 (NRF2) pathway, which has been found in several types of cancer and is implicated in the expression of genes associated with antioxidant responses (Linehan and Rouault, Clin Cancer Res 19(13):3345 –3352, 2013). In this article, we present the results of a gene expression analysis performed on peripheral blood cells from patients with HLRCC syndrome, where upregulation of numerousNRF2 targets and the differential expression of two key genes, Jun dimerization protein 2 (JDP2) and Phosphoglycerate mutase family member 5 (PGAM5), which are involved in the control of thi...
Source: Familial Cancer - Category: Cancer & Oncology Source Type: research

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Authors: Yang L, Zhao S, Xia P, Zheng HC Abstract REIC (Reduced Expression in Immortalized Cells) gene is down-regulated in immortalized cells, compared with the normal parental counterparts. Its encoding protein could inhibit colony formation, tumor growth, and induce apoptosis. To investigate the roles of REIC expression in lung cancer, we examined REIC expression in lung cancer cells and tissues by RT-PCR or Western blot, and observed the effects of both recombinant REIC exposure and REIC overexpression on the aggressive phenotypes of lung cancer cells. It was found that the demethylation of REIC promoter by 5-A...
Source: Histology and Histopathology - Category: Cytology Tags: Histol Histopathol Source Type: research
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Source: Current Awareness Service for Health (CASH) - Category: Consumer Health News Source Type: news
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Source: Health News from Medical News Today - Category: Consumer Health News Tags: Cancer / Oncology Source Type: news
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Source: Journal of Rheumatology - Category: Rheumatology Tags: J Rheumatol Source Type: research
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Source: RSC - New J. Chem. latest articles - Category: Chemistry Authors: Source Type: research
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Source: Surgical Endoscopy - Category: Surgery Source Type: research
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