Endocrine Abstracts

Since the discovery of melanocortin 4 receptor (MC4R) as an important regulator of food intake it has been recognised as one of the major monogenic factors of obesity. However the mutations identified are usually very rare, not found in control subjects from the background population and can explain only a minor part of heritability (2–3%). Here we explore the role of non-synonymous mutations identified by MC4R sequencing in cohort of 380 severely obese individuals (BMI 3...

Background: It has been reported that primary treatment with somatostatin analogues (SSA) is effective in up to 60% of acromegaly patients, but predictive value of the acute octreotide suppression test (OST) for selection of patients with good response to depot SSA in long term treatment remains controversial.Patients and methods: Twelve medical therapy naive patients (mean age 44 years, female 75%) with active acromegaly were included in prospective stu...

Membrane expression of ACTH receptor MC2R is specifically limited to adrenal cells. In addition, unlike the other members of the evolutionary related MCRs that recognize different melanocortin peptides, the MC2R solely binds ACTH. We used cassette substitutions and mutagenesis of individual amino acids for systematic construction of 30 chimeric and mutant MC2R/MC4R receptors to identify the receptor structures determining the selectivity of MC2R in membrane trafficking and ACT...

Objective: Metformin is one of the most widely used drugs in primary therapy for the treatment of type 2 diabetes (T2D). Despite its overall efficiency in T2D treatment metformin shows significant proportion of patients suffering from number of side effects. So far number of polymorphisms mainly in genes coding for various metformin transporter proteins have been described in association with metformin efficiency. However, no information exists on influence of genetic variatio...

Background: Many patients with type 2 diabetes (T2D) are not reaching glycemic targets even by using different combinations of antidiabetic drugs, including insulin. On the other hand, intensified multidrug therapy is associated with increased risk of severe side effects and individualized selection of medication is essential. The aim of our study is to evaluate efficiency of personalized pharmacotherapy according to the genotype and phenotype of T2D patients.<p class="abs...