OR10-002 - A novel TNFR1 transcript of TRAPS gene
نویسندگان
چکیده
Methods Expression of TNFRSF1A transcripts was performed by RT-PCR in a range of human cells and tissues. Exon 2 splicing and transcriptional activity were analysed in HEK293T and SW480 cells by in vitro alternative splicing and luciferase assays, respectively. We constructed haplotypes containing rs4149570, rs767455 and rs1800692 in controls (n=70), TRAPS (n=111) and TRAPS-like patients (n=450) to compare their distribution and association with clinical features of TRAPS.
منابع مشابه
Characterization of the TNFR1-d2 protein: Implication in TNF receptor associated periodic syndrome (TRAPS)?
Introduction Binding of TNF to TNF receptor 1 (TNFR1) induces both the survival pathway by activation of the NF-kB transcription factor, and the death pathway by apoptosis. Mutations in the TNFR1 gene (TNFSFR1A) are responsible for the auto-inflammatory disease TRAPS, a dominantly inherited hereditary recurrent fever. Various defects such as defective TNFR1 receptor shedding, protein misfolding...
متن کاملOR10-001 - Altered mitochondrial ROS and metabolism in TRAPS
Introduction Mutations in TNFR1 cause the familial autosomal-dominant autoinflammatory disorder TNF receptor-associated periodic syndrome (TRAPS). Most TRAPS-associated mutations in TNFR1 disrupt normal receptor function and cause retention of the mutant protein in the ER. Cells expressing mutant TNFR1 have enhanced MAP Kinase activation at baseline and hyper-responsiveness to innate immune sti...
متن کاملIdentification of a new exon 2-skipped TNFR1 transcript: regulation by three functional polymorphisms of the TNFR-associated periodic syndrome (TRAPS) gene.
BACKGROUND Mutations in the TNFRSF1A gene encoding the tumour necrosis factor α cell surface receptor, TNFR1, cause TNFR-associated periodic syndrome (TRAPS) and polymorphisms in TNFRSF1A, including rs4149570, rs767455 and rs1800692, are associated with inflammatory diseases. OBJECTIVES To describe a new exon 2-spliced transcript-TNFR1-d2-and the impact of these three single nucleotide polymo...
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Introduction TNF-receptor associated periodic syndrome (TRAPS) is a rare, dominantly inherited periodic fever syndrome due to mutations of the TNFRSF1A gene. The IL-1 receptor antagonist anakinra has been reported to be an efficacious daily treatment. Canakinumab (CAN) is a fully human monoclonal selective anti-IL-1b antibody with a T1/2 of ~4 wks. Interim clinical and PK data of CAN treatment ...
متن کاملFalling into TRAPS – receptor misfolding in the TNF receptor 1-associated periodic fever syndrome
TNF receptor-associated periodic syndrome (TRAPS) is a dominantly inherited disease caused by missense mutations in the TNF receptor 1 (TNFR1) gene. Patients suffer from periodic bouts of severe abdominal pain, localised inflammation, migratory rashes, and fever. More than 40 individual mutations have been identified, all of which occur in the extracellular domain of TNFR1. In the present revie...
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عنوان ژورنال:
دوره 11 شماره
صفحات -
تاریخ انتشار 2013