Naslov
Genetics of Type 1 Diabetes

Autori
Zemunik, Tatijana ; Boraska, Vesna

Vrsta, podvrsta i kategorija rada
Poglavlja u knjigama, znanstveni

Knjiga
Type 1 Diabetes - Pathogenesis, Genetics and Immunotherapy

Urednik/ci
Wagner, David

Izdavač
IntechOpen

Grad
Rijeka

Godina
2011

Raspon stranica
529-548

ISBN
978-953-307-362-0

Ključne riječi
Type 1 diabetes, linkage analysis, association analysis, case-control study, family-based study, candidate gene aproach, genome-wide association studies, epigenetics, environment

Sažetak
Type 1 diabetes (T1D) is an autoimmune disease characterized by immune destruction of insulin-producing pancreatic β cells. This leads to dysfunctional regulation of blood glucose levels in T1D patients. The destruction of β cells of Langerhans islets is caused by infiltration of dendritic cells, macrophages and T lymphocytes. The destruction of β cells starts with an autoimmune process that is followed by massive destruction of β cells later on. Autoantibodies against T1D-specific antigens are present in serum and can be detected in the early stage of the disease. There are several main types of T1D autoantibodies: islet antibodies, antibodies to insulin (IAA), glutamic acid decarboxilase (GADA) and tyrosine phosphatise IA-2. In the last few years antibodies to zinc transporter (ZnT8) have been added to this group. It is generally accepted that T1D occurs as a result of genetic and environmental factors when presence of many alleles combined with effects of numerous environmental factors lead to disease development. Research of T1D genetic basis and environmental factors has increased dramatically in the last two decades. Today it is considered that beside HLA region on chromosome 6q21 that contributes approximately with 40% to T1D development, more than 50 non-HLA genes significantly increase the risk of T1D occurrence. The final aim of genetic research is integration with clinical practice, which is expected once the main understanding of genetic etiology of T1D is achieved. Translation to clinics includes development of genetic-based diagnostic tests, population screening methods and prevention strategies, and finally, development of new treatments and therapies.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti

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