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IDENTIFICATION OF THE MC4R START LOST MUTATION IN A MORBIDLY OBESE BRAZILIAN PATIENT
Pressão sanguínea
Mutação perdida
Gene do receptor da melanocortina 4
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Abstract
Melanocortin 4 receptor gene (MC4R) is an important regulator of food intake,
body weight, and blood pressure. Mutations in MC4R are associated with the most common
form of nonsyndromic monogenic obesity. MC4R variations have an autosomal co-/dominant
model of inheritance. MC4R screening could reveal individuals previously unrecognized
with Mendelian form of obesity for further clinical management and genetic counseling.
However, there are limited data regarding MC4R variants in patients with obesity from Brazil.
The aim of this study was to screen the coding region of the MC4R gene in a Brazilian cohort
of severely obese adults and to investigate the phenotype–genotype correlation within MC4R
variant carriers.
Keywords in Portuguese
Obesidade gravePressão sanguínea
Mutação perdida
Gene do receptor da melanocortina 4
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