Searchable abstracts of presentations at key conferences in endocrinology

ea0026p333 | Obesity | ECE2011

Investigating the role of FTO in obesity: dysregulation of satiety signalling

McMurray F , Church C , Cox R D

In 2007 a genome wide association study linked SNPs in intron 1 of FTO with an increased body mass index. Individuals with the ‘risk’ allele are on average 3 kg heavier than those with the ‘protective’ allele. Furthermore, those with the ‘risk’ allele have demonstrated greater energy intake. Mouse models of FTO have been generated including a conditional overexpression allele of FTO, which has 2 additional copies of FTO (FTO-4). These mice have in...

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...

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...

ea0019p7 | Bone | SFEBES2009

A mouse model, Hcalc1, for autosomal dominant hypercalciuria is due to a transient receptor potential cation channel, subfamily V, member 5 (Trpv5) mutation

Loh N , Stechman M , Ahmad B , Hannan F , Hough T , Chiev K-P , Stewart M , Bentley L , Cox R , Brown S , Thakker R

To identify genes causing hypercalciuria, we screened male offspring of C57BL/6J male mice mutagenised by N-ethyl-N-nitrosourea (ENU) for this abnormality. Mice were kept in accordance with UK Home Office welfare guidelines and project licence restrictions. Metabolic cage studies were performed to collect 24-hour urine samples, and this revealed one mouse with hypercalciuria (Hcalc1). Inheritance testing demonstrated that Hcalc1 was inherited as an autosomal domi...

ea0019p6 | Bone | SFEBES2009

A Ser1386Pro mutation in the C-propeptide domain of Col2a1 results in spondyloepiphyseal dysplasia congenita in mice

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

We are investigating mice treated with the chemical mutagen N-ethyl-N-nitrosourea (ENU) to establish models for hereditary bone disorders such as osteoporosis, osteoarthritis and skeletal dysplasias. We report on one such mouse model designated Longpockets (Lpk). Mice were kept in accordance with national welfare guidelines and project license restrictions. Lpk/+ mice are viable and fertile, present with short humeri by two weeks of birth and have a...