title: The pancreatic β cell and type 1 diabetes: innocent bystander or active participant?
abstract: Type 1 diabetes mellitus (T1DM) is a chronic disease resulting from destruction of insulin-producing pancreatic β cells. Genetic and environmental factors contribute to T1DM onset. Use of high-throughput DNA sequencing has allowed geneticists to perform genome-wide association studies (GWAS) to identify novel gene loci associated with T1DM. Interestingly, >50% of these genes encode products that are expressed in β cells. These studies, coupled with emerging molecular evidence that β cells are impaired by gain-of-function or loss-of-function of these loci, suggest an active role for the β cell in eliciting its own demise. Although immune dysregulation plays a vital role in T1DM pathogenesis, understanding the mechanisms contributing to β cell failure may lead to new strategies to preserve or improve β cell function in patients with T1DM.
authors: Institute for Diabetes, Obesity, and Metabolism, and the Division of Endocrinology, Diabetes, and Metabolism, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
authors: Scott A
authors: SA
authors: Soleimanpour
authors: Doris A
authors: DA
authors: Stoffers
mesh_terms: D000818:Animals; D017209:Apoptosis; D015551:Autoimmunity; D016207:Cytokines / Q000378:metabolism; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics / Q000276:immunology* / Q000378:metabolism; D004195:Disease Models, Animal; D059865:Endoplasmic Reticulum Stress; D014644:Genetic Variation; D015395:Histocompatibility Antigens Class I / Q000096:biosynthesis*; D006801:Humans; D050417:Insulin-Secreting Cells / Q000276:immunology* / Q000378:metabolism; D008213:Lymphocyte Activation; D008247:Lysosomes / Q000276:immunology / Q000378:metabolism; D008954:Models, Biological; D015398:Signal Transduction; D013601:T-Lymphocytes / Q000276:immunology*
chemical_list: D016207:Cytokines; D015395:Histocompatibility Antigens Class I
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