音声学と聴覚学ジャーナル
オープンアクセス

概要

Single Nucleotide Variants and Somatic Aberrations of A20 in Immune-Related Diseases and Lymphoid Neoplasms

Karoline Fechter, Peter Neumeister and Alexander J A Deutsch

A20- also called tumor necrosis factor (TNF) α induced protein 3 (TNFAIP3) - is an ubiquitin-modifying enzyme, which acts as negative regulator of the NF-κB pathway. Aberrant activation of NF-κB has been shown to contribute to chronic inflammation and development of cancer. Somatic mutations and epigenetic silencing at A20 have been recently identified to be involved in the development of classical Hodgkin and many other types of non- Hodgkin lymphomas, thereby rendering A20 a classical tumor suppressor. Moreover, single nucleotide polymorphisms of A20 have been described to participate in the development of autoimmune diseases of the intestinal tract, systemic lupus erythematosus, rheumatoid arthritis and diabetes mellitus Type I. Here we want to summarize different polymorphisms related to autoimmune disorders and mention other SNPs, mutations and epigenetic mechanisms affecting A20 in lymphomas and multiple myeloma.