Searchable abstracts of presentations at key conferences in endocrinology
Previous issue | Volume 19 | SFEBES2009 | Next issue

Society for Endocrinology BES 2009

Oral Communications

Bone and Calcium

ea0019oc25 | Bone and Calcium | SFEBES2009

Genome-wide abnormalities in parental inheritance patterns and DNA methylation in Russell–Silver syndrome

Dias R , Bogdarina I , Johnston L , Buchanan C , Savage M , Hokken-Koelega A , Clark A

Background: Russell–Silver syndrome (RSS) is a heterogeneous condition characterised by pre- and post-natal growth retardation in association with variable dysmorphic features including triangular facies and body asymmetry. The condition has previously been linked to 2 genetic abnormalities: aberrant methylation at the 11p15.5 locus in 30–40% and maternal uniparental disomy (UPD) of chromosome 7 in 10% of cases. Up to 50% of children currently have no identified (epi...

ea0019oc26 | Bone and Calcium | SFEBES2009

Primary hyperparathyroidism (Nationwide Cohort Study): an increased risk of cancer and decreased survival

Ghosh S , Collier A , Clark D , Elhadd T , Malik I

Introduction: • The incidence of primary hyperparathyroidism (PHPT) in Scotland is approximately 3.5/100 000 per year.• The incidence is probably on the rise due to increase in ‘routine biochemical testing’• Some patients tend to undergo surgery, while others are conservatively treated and most followed up for a short period before discharge from follow up.Aims: • Determine if ri...

ea0019oc27 | Bone and Calcium | SFEBES2009

Adipokines may modify osteoblast wnt-signalling through dickkopf-1, and promote osteoclastogenesis by altering RANK-L and osteoprotegerin signalling in obese children

Dimitri P , Wales J , Bishop N

Introduction: We have recently presented data demonstrating total body and regional bone mass relative to body size is reduced in obese children. Adipokines have been shown to play a role in bone metabolism. We hypothesised that 1) increased bone turnover would be associated with reduced bone mass 2) increased serum leptin would be associated with increased osteoclastogenic factors 3) reduced adiponectin woul...

ea0019oc28 | Bone and Calcium | SFEBES2009

Novel Glial Cells Missing B (GCMB) mutations (Arg39Stop and Arg110Trp) that result in loss of subcellular localization and DNA binding, respectively, are associated with autosomal recessive hypoparathyroidism

Bowl MR , Mirczuk S , Cranston T , Bahl S , Allgrove J , Nesbit MA , Thakker RV

GCMB, which is the mammalian homologue of the Drosophila gene Glial cells missing, encodes a 506 amino acid parathyroid-specific transcription factor that contains: a GCM DNA-binding domain at residues 19–176; a predicted nuclear localization signal (NLS) at residues 176–193; an inhibitory domain at residues 258–347; and two transactivation domains at residues 174–263, and residues 428–506. To date only six different GCMB mu...

ea0019oc29 | Bone and Calcium | SFEBES2009

Nuf mice with an activating calcium sensing receptor mutation, Leu723Gln, have hypercalciuria and diabetes insipidus

Hannan F , Walls G , Nesbit M , Hough T , Shine B , Cheeseman M , Lyon M , Cox R , Thakker R

The calcium sensing receptor (CaSR) is a G protein coupled receptor that is expressed in the parathyroids and kidneys, where it plays a pivotal role in the regulation of extracellular calcium homeostasis. Patients with activating CaSR mutations have autosomal dominant hypocalcaemia with hypercalciuria (ADHH), which is associated with polydipsia, polyuria, nephrocalcinosis and renal impairment. The Nuf mouse, which has an activating CaSR mutation (Leu723Gln) has been reported t...

ea0019oc30 | Bone and Calcium | SFEBES2009

Mice deleted for the hyperparathyroidism-jaw tumour (HPT-JT) syndrome allele have abnormal parathyroids with increased proliferation rates

Walls G , Bowl M , Jeyabalan J , Reed A , Harding B , Ali A , Bradley K , Wang P , Chen J , Williams B , Teh B , Thakker R

The hyperparathyroidism-jaw tumour (HPT-JT) syndrome, an autosomal dominant disorder, is characterised by the occurrence of parathyroid tumours, often carcinomas, and ossifying fibromata of the jaw. The HPT-JT gene, referred to as HRPT2, is located on chromosome 1q25 and consists of 17 exons that encode a 531 amino-acid protein designated parafibromin. To explore the role of HRPT2 in parathyroid tumourigenesis, we generated two mouse models that comprised a conve...

ea0019oc31 | Bone and Calcium | SFEBES2009

A mouse with a Trp589Arg mutation in N-acetylgalactosaminyltransferase 3 (Galnt3) provides a model for familial tumoural calcinosis

Esapa C , Head R , Chan C , Crane E , Cheeseman M , Hough T , McNally E , Carr A , Thomas G , Brown M , Croucher P , Brown S , Cox R , Thakker R

Investigations of bone disorders which are often inherited have yielded important insights in the molecular mechanisms of bone development, osteoporosis and osteoarthritis. However, these studies have been hampered by the lack of available patients and affected families. To overcome this limitation, we have investigated mice treated with the chemical mutagen N-ethyl-N-nitrosourea (ENU) for hereditary bone disorders. Mice were kept in accordance with national welf...

ea0019oc32 | Bone and Calcium | SFEBES2009

Human primary cytotrophoblasts from normal and IUGR pregnancies respond differently to T3 treatment in vitro

Vasilopoulou E , Loubiere L , McCabe C , Franklyn J , Kilby M , Chan S

Maternal thyroid hormones (THs) are important for fetoplacental development. We have previously reported lower fetal circulating concentration of THs in severe intrauterine growth restriction (IUGR) compared to gestationally-matched normal fetuses. The villous placental expression of TH receptors (TRs) and the TH transporter MCT8 is increased, whilst MCT10 expression is decreased, with severe IUGR.Objective: To assess the TH responsiveness of human cytot...