Identificación de mutaciones en el GEN AIP relacionado con la acromegalia en pacientes del Hospital de Especialidades Eugenio Espejo, Quito-Ecuador.

Abstract

Acromegaly is considered a rare disease, presenting as a neuroendocrine condition of low occurrence, caused by the uncontrolled segregation of growth hormone (GH) and the increase of insulin-like growth factor 1 (insulin-like growth factor 1, IGF-1). The appearance of signs and symptoms, as well as the delay in diagnosis up to 10 to 15 years, has significantly increased the morbidity and mortality of patients. It has been determined that acromegaly is caused by the appearance of pituitary adenomas with benign characteristics, the tumors caused by mutations are related to the genes AIP, MEN 1, MEN 4, Carney Complex and GNAS. The objective of the present investigation was to identify mutations in the AIP gene related to the development of acromegaly in patients of the Hospital de Especialidades Eugenio Espejo. The six exons of the AIP gene were sequenced, using the Sanger methodology, and the subsequent analysis for the identification of gene variants and their possible relationship with the development of Acromegaly. Were obtained nine gene variants within the 32 patients that were part of the study, presenting most of these in the terminal region of the gene, associated with the coding of the carboxy terminal region of the protein, an essential part for the biological activity of the protein. The study of the linear model of Dummy variables, determined the correlation between variable V243V and microadenomas (P <0.05).