ESPE Abstracts

Background: Disorders of the calcium sensing receptor (CaSR) cause hyper- and hypo- calcemia, depending on the location and type of mutation. Familial hypocalciuric hypercalcemia is a benign disorder in which calcium levels are slightly elevated in the presence of slightly elevated parathyroid hormone (PTH). Neonatal severe hyperparathyroidism (NSHPT) is a rare life-threatening disorder in which there are high levels of calcium accompanied by high levels of pa...

Background: Wolfram syndrome type 2 (WFS2) characterized by childhood GI ulcers/ bleeding, diabetes, and neurodegeneration with optic atrophy and hearing loss was recently elucidated as caused by CISD2/NAF-1 gene mutation. NAF-1 suppression in cells results in intra-mitochondrial accumulation of iron, increased ROS generation and consequently increased cellular apoptosis. So far only two mutations in four families were reported.Objective: Elucidate the c...