Endocrine Abstracts

Familial medullary thyroid carcinoma (FMTC) is an autosomal dominant inherited disease, characterized by germ-line mutations in the RET proto-oncogene, mainly in exons 10 and 11, but also in exons 13, 14 and 15. Recently, there were described also mutations in exon 8 and 16 associated with FMTC. In our laboratory the screening of six risk exons of the RET proto-oncogene in 141 families with MTC was performed. 10 families were classified as clinically FMTC. In 4 of them mutatio...

Objective: To investigate a possible association of DRB1, DQA1 and DQB1 alleles with the chronic autoimmune thyroiditis (AT) development in patients with diabetes mellitus type 1 (DM1) manifested between 18 to 40 years of age. Patients and methods: In 118 patients with DM1 (age at DM1 diagnosis 28.0 (6.9) years, duration of DM1 14.0 (6.3) years) HLA-DRB1, -DQA1 and -DQB1 alleles were analysed by sequence specific oligonucleotide probes and sequence specific primers. AT was pre...

Introduction: Graves’ disease (GD) is the most common cause of hyperthyroidism. The first-choice therapy is administration of thyreostatic drugs. However, approximately half of patients relapse within two years of discontinuation. It is then necessary to decide whether to re-initiate thyreostatic treatment, which may have serious side effects, or to choose a radical approach (TTE, radioiodine). Familial forms of GD indicate that the disease has a significant genetic compo...

Objectives: Mutations in the DICER1 gene represent driver events in development of pediatric thyroid nodules, malignant as well as benign. The occurrence of these mutations has been reported in differentiated thyroid carcinomas, poorly differentiated thyroid carcinomas, non-invasive follicular thyroid neoplasms with papillary-like nuclear features (NIFTPs), multinodular goiters and follicular adenomas. The aim of this study was to detect mutations in DICER1 g...

Introduction: To understand the pathological changes associated with glucose homeostasis in old age, it is necessary to know the natural changes in the processing of proinsulin into mature insulin. Surprisingly, while there is abundant information about insulin function in diabetics, the situation in healthy adults and old humans was rarely examined.The study aimed: To determine how the proinsulin secretion in individuals with normal glucose tolerance ch...

Introduction: Medullary thyroid carcinoma (MTC) is a calcitonin-producing tumor that predominantly occurs in a sporadic form (75%) and less commonly in an inherited form. Besides activating germline mutations of the RET proto-oncogene in hereditary syndromes of MEN2, somatic RET mutations are detectable in about 50% of sporadic MTC. Further, also RAS mutations have been discovered in 30% of RET-negative tumor tissues. Other genetic alteratio...

Introduction: Alzheimer’s disease (AD) is a neurodegenerative disease that is manifested by progressive loss of cognitive function. Neuroactive steroids and their metabolites have an important regulatory role in the nervous system, affect neuronal plasticity, response to stress, learning and memory and have a neuroprotective effect. One of the not fully elucidated risk factors for AD is impaired glucose tolerance/type 2 diabetes (T2D). It is well known that lower androgen...

Objectives: Although, almost all patients with inherited medullary thyroid carcinomas (MTC) harboured RET proto-oncogene mutation, in patients with sporadic MTC, mutations in RET are detected only in half of cases. Thus still unknown genetic causes are responsible for half of sporadic MTC and it is necessary to search for another mutations.Methods: DNAs from fresh frozen thyroid tissues of 27 sporadic MTC were extracted. The next-genera...

Introduction: Thyroid carcinomas are the most often endocrine malignancy and their incidence is still growing. Thus, the finding of genetic predispositions to the thyroid cancer is desired. One of the genetic causes can be risk variants of tumor suppressor genes in patients. Our goal was to determine the influence of polymorphisms Val109Gly (T/G) in gene CDKN1B encoding protein p27/Kip1 and Arg72Pro (C/G) in gene TP53 encoding protein p53 on the development of thyroid cancer. ...

Introduction: The SNP rs7578597 (Thr1187Ala) of THADA gene was identified in GWA studies as a novel type 2 diabetes risk locus. Nevertheless, subsequent studies of this SNP effect have been inconclusive. In some studies, rs7578597 has been associated with insulin secretion but no significant correlation with type 2 diabetes has been reported. Product of THADA gene is considered to be involved in apoptosis. Whether rs7578597 affects insulin secretion throught the apoptosis of p...