Polimorfismos genÃticos da mannose binding lectin em adolescentes com diabetes melito tipo 1

AUTOR(ES)

Jacqueline AraÃjo

DATA DE PUBLICAÇÃO

2009

RESUMO

Type 1 diabetes is an autoimmune disease in which progressive destruction of pancreatic beta cells results in persistent hyperglycemia. Despite all the progress, the etiopathogenic mechanisms of this disease, is still not very well understood, which difficult the discovery of effective methods of prevention and cure. With the development of studies, several genes involved in diabetes have been identified. The main objective of this thesis was to evaluate whether polymorphisms of the MBL2 gene are more frequent in young people with type 1 diabetes mellitus than in healthy subjects and to study the role of ethnicity and genetic heterogeneity in the susceptibility to MBL2 gene polymorphisms observed in a group of children and adolescents with type 1 diabetes mellitus. The secondary objective was to discover the prevalence of auto-immune thyroid disease and thyroid dysfunction in this group of patients. MBL2 single nucleotide polymorphisms genotyping was performed by real-time PCR and melting curve analysis, Anti-thyroperoxidase antibodies were used for detection of the autoimmune thyroid disease. The results, showed that MBL2 gene polymorphisms were significantly more frequent in patients with type 1 diabetes than in the healthy control group. The comparison between healthy individuals from different origins suggests that the MBL2 gene polymorphisms susceptibility in type 1 diabetes patients cannot be explained only by ethnicity and genetic heterogeneity. Our results showed high prevalence of autoimmune thyroid disease and thyroid dysfunction in patients with diabetes. We conclude that functional MBL2 gene polymorphisms, leading to a reduction of MBL circulating serum protein, can be considered as a predisposition factor for developing type 1 diabetes in Pernambuco, northeastern of Brazil. The routine screening of autoimmune thyroid disease and thyroid function tests should be considered in patients with type 1 diabetes

ASSUNTO(S)

type 1 diabetes diabetes melito tipo 1 doenÃa tireoideana auto-imune polimorfismos do gene mbl2 autoimmune thyroid disease ciencias biologicas mbl2 gene polymorphisms

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