Endocrine Abstracts

The transcription factor HIF-1α regulates hypoxia-mediated gene expression which promotes tumour growth, metastasis and desensitisation to chemo-and radiotherapy. HIF-1 is functional in a range of thyroid-carcinoma cells and is regulated by hypoxia and the PI3K and MAPK-signalling pathways.We aimed to determine if HIF-1 and PI3K were important in the development of a metastatic phenotype and play a role in desensitisation to radiotherapy in thyroid ...

Introduction: Every year 30 000 patients will suffer a traumatic brain injury (TBI) in The Netherlands. About two-thirds will develop post-TBI chronic fatigue (CF). Hormone deficiencies related to pituitary damage might contribute.Aim: To examine the clinical importance of hormonal and non-hormonal factors as issues contributing to chronic fatigue in post-TBI subjects.Patients and methods: The checklist individual strain (CIS), a w...

The tachykinin neurokinin B (NKB) has prominent roles in neuroendocrine function, behaviour and the control of reproductive processes, yet little is known about its evolution, potential splice variants or the manner in which it is processed. Indeed, the cloning of human TAC3 in 2000 revealed a single gene transcript encoding a single precursor and single tachykinin. Here, we deduce the phylogenetic relationship of a family of NKB peptides, and identify novel TAC3...

Mutation Y791F of RET protooncogene is a well known mutation so far described in families with FMTC and familial pheochromocytoma in one family. It activates the receptor in a monomeric form. Here we present eight unrelated families with the same mutation but different fenotype expression.Patients and methods: In last 20 years, we analyzed 216 patients with MTC (age range: 3–75 years, 45.0 mean). Genetic testing for mutation in RET pro...

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...

There are two types of neoplasms derived from chromaffine tissue: pheochromocytomas (tumors of adrenal core) and paragangliomas (tumors located extraadrenally). Majority of these tumors are sporadic, although according to literature, when DNA analysis is carried out, hereditary disease can be diagnosed in about 25% of patients: Multiple Endocrine Neoplasia type 2 (MEN2A and MEN2B), von Hippel-Lindau Syndrome (VHL), Pheochromocytoma/Paraganglioma Syndrome (PPS) and neurofibroma...

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...

Toxic multinodular goiter is a heterogeneous disease producing hyperthyroidism frequently found in iodine-deficient areas. The aim of this study was to evaluate the gene expression profile of functioning and non-functioning thyroid nodules present in the same thyroid gland from two patients affected by autonomous multinodular goiter by using the Affymetrix technology.Total RNA was extracted from nodular and non nodular tissues, retrotranscribed, and the ...

Thyroid associated ophthalmopathy (TAO) is a chronic autoimmune disorder characterized by an increased volume of the adipose/connective tissue in the human orbit. Fibroblasts from the connective orbital tissue are able to differentiate into mature adipocytes if grown in particular culture conditions. Aim of the present study was to determine the gene expression profile of orbital fibroblasts after adipocytic differentiation. Fibroblasts in primary culture were obtained from or...

For the last two decades this laboratory has been investigating the states of vitamin D and gonadal steroid hormone resistance in New World primate (platyrrhine) species. Hormone resistance results from the constitutive over-expression of proteins in the heterogeneous nuclear ribonucleoprotein (hnRNP) A and C families. These proteins, originally considered to bind and 'stabilize' single strand pre-mRNAs destined for translation, also bind DNA, regulating both the transcription...