Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Troppan, K; Hofer, S; Wenzl, K; Lassnig, M; Pursche, B; Steinbauer, E; Wiltgen, M; Zulus, B; Renner, W; Beham-Schmid, C; Deutsch, A; Neumeister, P.
Frequent down regulation of the tumor suppressor gene a20 in multiple myeloma.
PLoS One. 2015; 10(4):e0123922-e0123922
Doi: 10.1371/journal.pone.0123922
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- Führende Autor*innen der Med Uni Graz
- Deutsch Alexander
- Hofer Sybille
- Prochazka Katharina
- Co-Autor*innen der Med Uni Graz
- Beham-Schmid Christine
- Neumeister Peter
- Renner Wilfried
- Steinbauer Elisabeth
- Wenzl Kerstin
- Wiltgen Marco
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- Abstract:
- Multiple myeloma (MM) is a malignant clonal expansion of plasma cells in the bone marrow and belongs to the mature B-cell neoplams. The pathogenesis of MM is associated with constitutive NF-κB activation. However, genetic alterations causing constitutive NF-κB activation are still incompletely understood. Since A20 (TNFAIP3) is a suppressor of the NF-κB pathway and is frequently inactivated in various lymphoid malignancies, we investigated the genetic and epigenetic properties of A20 in MM. In total, of 46 patient specimens analyzed, 3 single base pair exchanges, 2 synonymous mutations and one missense mutation were detected by direct sequencing. Gene copy number analysis revealed a reduced A20 gene copy number in 8 of 45 (17.7%) patients. Furthermore, immunohistochemical staining confirmed that A20 expression correlates with the reduction of A20 gene copy number. These data suggest that A20 contributes to tumor formation in a significant fraction of myeloma patients.
- Find related publications in this database (using NLM MeSH Indexing)
- Apoptosis - genetics
- Carcinogenesis - genetics
- DNA-Binding Proteins - biosynthesis
- Gene Dosage - genetics
- Gene Expression Regulation, Neoplastic -
- Humans -
- Intracellular Signaling Peptides and Proteins - biosynthesis
- Multiple Myeloma - genetics
- Mutation, Missense -
- NF-kappa B - genetics
- Nuclear Proteins - biosynthesis
- Tumor Suppressor Proteins - biosynthesis