Searchable abstracts of presentations at key conferences on calcified tissues

ba0001pp468 | Other diseases of bone and mineral metabolism | ECTS2013

Miglustat therapy normalizes bone mass in a mouse model of cystic fibrosis

Henaff Carole Le , Hay Eric , Velard Frederic , Marty Caroline , Marie Pierre J , Jacquot Jacky P

Brittle bones have been reported in children, adolescents and adults with cystic fibrosis (CF), independently of sex; this has been termed CF-related bone disease. In CF patients with the F508del mutation in the (Cftr) gene, vertebral fractures and the subsequent dorsal kyphosis decrease pulmonary function, thus accelerating the course of the disease. Mice with the homozygous F508del mutation in CFTR develop a severe osteopenic phenotype early on, in both sexes (Le He...