Cystic fibrosis transmembrane conductance regulator (CFTR) is expressed in human bone

• Published in: Thorax Vol. 62; no. 7; pp. 650 - 651
• Main Authors: Shead, Elizabeth F, Haworth, Charles S, Condliffe, Alison M, McKeon, Damian J, Scott, Mike A, Compston, Juliet E
• Format: Journal Article
• Language: English
• Published: England BMJ Publishing Group Ltd and British Thoracic Society 01.07.2007; BMJ Publishing Group LTD; BMJ Group
• Subjects: Animals; Bone and Bones - embryology; Bone and Bones - metabolism; Bone diseases; Cells, Cultured; Cloning; Cystic fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator - metabolism; Cytoplasm; Genes; Humans; Letters; Mice; Mutation; Mutation - genetics; Osteoblasts - metabolism; Osteoporosis - metabolism
• ISSN: 0040-6376; 1468-3296
• DOI: 10.1136/thx.2006.075887

Dif et al 1 reported an abnormal skeletal phenotype in CFTR-null mice with striking osteopenia, reduced cortical width and thinning of the trabeculae, while in a study of adults with CF, the [DELTA]F508 mutation was shown to be an independent risk factor for low bone mineral density. 2 An association between CFTR mutations and bone disease might be mediated either indirectly by effects of the mutations on other systems (for example, the endocrine system), or it could be due to abnormally functioning CFTR in bone cells. Immunolocalisation of CFTR was performed in human neonatal bone sections, primary human osteoblasts, an osteoblastic cell line (MG63) and osteoclasts cultured from peripheral blood mononuclear cells. 3 T84 colonic carcinoma cells were used as a positive control.