Endocrine Abstracts

The identification of genomic determinants responsible for common multifactorial diseases like type 2 diabetes mellitus (T2DM) is facilitated in large families from relatively genetically-isolated populations and can extend results from GWS based on a case–control cohort to detect rare alleles with strong effects. In order to search for sequence variants conferring risk of T2DM we previously conducted a genome-wide linkage study in 108 French–Canadian families from t...

Polycystic ovary syndrome (PCOS) is considered as a risk factor for diabetes type 2 (DM2), it is often associated with obesity, β-cell dysfunction or insulin resistance. Genetic factors underlying the association of PCOS with DM2 is unknown. Recent human genetic studies have revealed that transcription factor 7-like (TCF7L2) polymorphisms are associated with DM2 through modulation of β-cell function.The aim of this study was to test if <...

RET proto-oncogene is activated in the development of PTC via RET/PTC rearrangements. Single nucleotide polymorphisms (SNPs) of the gene are associated with PTC in some studies. We investigated possible association of SNPs with RET/PTC in Czech patients. We analyzed 234 patients with PTC (101 fresh frozen thyroid samples, 133 paraffin-embedded formalin-fixed samples) and 172 controls. RNA from frozen samples was reversely transcribed to cDNA. RET/PTC</i...

Background and aims: The fat mass and obesity associated gene (FTO) was identified as a gene with strong obesity related traits nevertheless the exact mechanism is still unknown. Our aim was to study the possible effects of FTO risk haplotype on anthropometric data and metabolic and hormonal parameters in lean women (to eliminate the influence of BMI) and to evaluate the effect of hormone contraception (HC).Materials and methods: The SNPs r...

Melanocortin-4 receptor (MC4R) gene is expressed in the brain and has been implicated in mediating most of the effects of melanocortin on food intake and energy expenditure. Common variants of MC4R gene are associated with fat mass, weight, risk of obesity and insulin resistance in several populations.We investigated if rs12970134 A/G is associated with obesity and studied its possible metabolic effects.Polymorphism was assesed by ...

Insulin hypersecretion during oral or intravenous glucose tolerance test (OGTT, ivGTT) was described previously in women with polycystic ovary syndrome (PCOS). Little attention was given to the regulation of insulin secretion in these subjects. We aimed to study the secretion of incretins (glucose-dependent insulinotropic polypeptide, GIP, glucagon-like peptide 1, GLP-1), during OGTT in normoglucose-tolerant PCOS women.After signing written informed cons...

Familial medullary thyroid carcinoma (MTC), multiple endocrine neoplasia types 2A and 2B (MEN2A, 2B) and Hirschsprung disease (HSCR) are inherited neurocristopathies linked to germline mutations in the RET proto-oncogene. Activating germline RET mutations are presented in patients with FMTC, MEN2A and MEN2B, on the other hand, inactivating germline mutations in patients with HSCR. Nevertheless, there is an overlay in specific mutations in the exon 10 of the RET proto-oncogene....

BRAF point mutations are found in 29-69% of papillary thyroid carcinoma (PTC). BRAF is a serine-threonine kinase involved in the phoshorylation of MAPK signaling pathway. The mutation is located in the exon 15 of BRAF, resulting in the substitution of valine to glutamate at codon 600 (V600E). Mutation generates unregulated B-Raf activity that leads to increased cellular proliferation. The aim of this study was to determine the frequency of BRAF mutation in the Czech population...

Aim and background: Retinol binding protein 4 (RBP 4) is an adipocyte-secreted molecule causing insulin resistance in transgenic animals. RBP was increased in subjects with impaired glucose tolerance and diabetes type 2. The levels of RBP-4 in PCOS were not investigated till now.Subjects and methods16 lean PCOS (BMI 21.4 (1.75) kg/m2, age 24.1 (4.1) years), 25 obese PCOS (BMI 30.3 (4.8) kg/m2, age 26.3 (5.0) years) and 13 healthy wo...

KCNJ11 as well as UCP2 genes are involved via modulation of ATP concentration in pancreatic beta-cells in control of insulin secretion. The aim of study was to compare genotypic distribution of E23K (KCNJ11) and G-866A (UCP2) polymorphisms between diabetics, their offspring and controls and to study the possible association of these polymorphisms with biochemical and anthropometric parameters.The study entered 302 diabetics, 165 offspring, 241 controls. ...