Marcadores da síndrome metabólica e alterações no tecido adiposo em uma família consanguínea com duplicações nas regiões cromossômicas: 9q34.3, 15q13.3 e 16p12.3

Abstract

ABSTRACT

Introduction: Metabolic syndrome (SM) is a serious public health problem and is associated with a significant increase in mortality because it is a risk factor for cardiovascular disease and type 2 diabetes mellitus, which presents as parameters or diagnostic markers: hypertriglyceridemia, low HDL cholesterol, altered fasting glycemia, hypertension, abdominal obesity, and heredity. Among these parameters heredity has been gaining strength through studies with inbred families and the advancement of technology in genetic research which has allowed new discussions about the causes of the syndrome. Objective: To analyze SM markers and adipose tissue alterations in an inbred family with duplication in the chromosomal regions: 9q34.3, 15q13.3 and 16p12.3. Methodology: A descriptive study, carried out between December 2016 and June 2017, at the Basic Family Health Unit in the town of Ladeira, located in the city of Barrocas, Bahia, with individuals belonging to an inbred family with duplications in the chromosomal regions 9q34.3, 15q13.3 and 16p12.3. Evaluations were performed: genetic, biochemical, hemodynamic and anthropometric. Statistical analysis consists of descriptive analysis of the data. Results: The study concluded that 10 individuals with chromosomal duplications were: two individuals with alterations in chromosomal segment 9q34.3, four individuals in segment 15q13.3, one in segment 16p12.3, one with alterations in segments 9q34.3 and 16p12.3, one that presented alterations in segments 9q34.3 and 15q13.3 and one that presented alterations in segments 15q13.3 and 16p12.3. Of the individuals surveyed, the four who had duplication in the 15q13.3 segment met the diagnostic criteria of the metabolic syndrome, whereas the individuals with alteration only in segments 9q34.3 and 16p12.3 did not present phenotype to SM or alterations in their markers. Conclusion: It was not possible to establish a relationship between the chromosomal segments 9q34.3 and 16p12.3 and the diagnostic markers of the metabolic syndrome, the only individual who presented the duplicate genes that were related to the SM markers in the literature, did not present a phenotype of SM or its diagnostic markers. However, there seems to be a relationship between the 15q13.3 segment with SM and the hypercholesterolemia diagnostic marker.