Endocrine Abstracts

Oxidative stress (OS) can have an impact both in the pathogenesis and in the progression of TC, as it has been shown to induce oncogenes and inhibit tumor suppressors. The main source of cellular ROS is represented by NADPH oxidases (NOXs). Aims of the study were to investigate the NOX-derived OS in TC samples, benign nodules and corresponding normal tissues, and to correlate the level of OS with histological classification, genetic profile and clinical and prognostic features...

Thyroid cancer (TC) is the most common endocrine tumor and its incidence has increased faster than in any other malignancy. Although TCs are usually well differentiated, disease recurrence or persistence is high, because of local and distant metastasis and therapeutic resistance. As in other cancer types, despite the promising results obtained in pre-clinical studies, the efficacy of Targeted Therapy is highly variable and therapy resistance is not uncommon. This may be due to...

Anaemia in RTHα patients correlates with documented abnormal erythropoiesis and reduced haematocrit in TRα-null or mutant mice, but the underlying mechanisms and characterization of the defect remain elusive. In a previous work, we described that the injection of several hTRα variants in zebrafish eggs caused a marked reduction of circulating erythrocytes at later stages of the erythropoiesis. To characterise the involvement of TRα during erythrocyte develo...

Introduction: Since 2012, different heterozygous mutations in the THRA gene have been described in patients with resistance to thyroid hormone alpha (RTHα). The associating symptoms are reminiscent of untreated congenital hypothyroidism (growth retardation, psycho-neuromotor disorders, delayed bone development and bradycardia) but with raised T3/T4 ratio and normal TSH levels. All genetic abnormalities act in a dominant negative (DN) manner against functional rec...

The X-linked genes accounting for the determination of the ovarian function are still undefined. In the last few years, a large interest has been dedicated to the BMP15 gene. BMP15 gene encodes for a TGFβ-like growth factor of oocyte origin with a critical role in female fertility in mammals and several other species. This gene maps to a locus on the short arm of X chromosome were locates several traits of TS, including ovarian failure. Several missense variations have be...

Poorly differentiated thyroid cancers are associated with variable types of p53 function derangements and bad prognosis due to the lack of effective treatments. SP600125 is a widely used JNK-inhibitor which recently showed anticancer properties in a p53 related way. Here, we tested the effect of SP600125 on four different thyroid cancer cell lines derived from PDTCs and ATCs with different p53 status.We analyzed the effects on cellular replication and ap...

The oocyte-derived growth and differentiation paracrine factor BMP15 has emerged as an essential regulator of the ovarian folliculogenesis, from evidences in animal models (knockout mice and sheeps with naturally occurring mutations) and humans. Indeed, several BMP15 mutations have been identified in association with primary ovarian insufficiency (POI), a heterogeneous and frequent fertility disorder characterized by the premature depletion of ovarian follicles in women <4...

Introduction: MEN-1 is a rare autosomal dominant familial cancer syndrome characterized by involvement of parathyroid glands, enteropancreatic endocrine tissues and anterior pituitary gland. This disease is linked to germline mutations in the MEN1 gene (more than 460 described), whose identification allows the familial genetic counselling. Here we describe a novel germinal mutation in exon 10 of the MEN1 gene identified in an Italian family.Case Report: ...

Cyclic AMP (cAMP) is the principal intracellular mediator of TSH effects in the thyroid, inducing both thyroid hormone production and cell proliferation. This notion derives from a large series of evidences, mainly obtained by biochemical approaches on cell lines or primary thyrocytes. However, given the limited resolution in time and space of the techniques employed so far, little is know about the spatial localization and temporal dynamics of cAMP signaling in thyroid cells....

Recent studies demonstrate an essential role of the EGF network in propagating the LH signal within ovarian preovulatory follicles. However, the molecular bases for the integration are poorly characterized. Here, we propose that the early LH signal leading to ovulation is amplified through activation of the EGF network.For this study, preovulatory follicles from euthanized gonadotropin-primed mice were isolated and cultured with or without recombinant LH...