ABCMdb

PMID: 22449949

Le Henaff C, Gimenez A, Hay E, Marty C, Marie P, Jacquot J
The F508del mutation in cystic fibrosis transmembrane conductance regulator gene impacts bone formation.
Am J Pathol. 2012 May;180(5):2068-75. Epub 2012 Mar 23., [PubMed]

Sentences

No. Mutations Sentence Comment

19 ABCC7 p.Gly542* The expression of CFTR protein has been identified by immunohistochemistry in human bone cells.19 We previously reported the expression of CFTR mRNA and protein in primary human osteoblasts (cells that form bone) and showed that inhibition of CFTR-mediated Clafa; channel activity affects the release of osteoprotegerin and prostaglandin E2, two key regulators of bone formation.20 We recently discovered a defective CFTR Clafa; channel activity and a deficit of osteoprotegerin production by primary osteoblasts from a 25-year-old CF patient with the F508del/G542X mutation in CFTR.21 One study in patients with CF with at least one F508del allele showed a direct association between the F508del mutation and low BMD in both sexes.22 However, the impact of the F508del allele mutation in CFTR on bone formation and bone mass remains unknown. Login to comment 20 ABCC7 p.Gly542* The expression of CFTR protein has been identified by immunohistochemistry in human bone cells.19 We previously reported the expression of CFTR mRNA and protein in primary human osteoblasts (cells that form bone) and showed that inhibition of CFTR-mediated Cl- channel activity affects the release of osteoprotegerin and prostaglandin E2, two key regulators of bone formation.20 We recently discovered a defective CFTR Cl- channel activity and a deficit of osteoprotegerin production by primary osteoblasts from a 25-year-old CF patient with the F508del/G542X mutation in CFTR.21 One study in patients with CF with at least one F508del allele showed a direct association between the F508del mutation and low BMD in both sexes.22 However, the impact of the F508del allele mutation in CFTR on bone formation and bone mass remains unknown. Login to comment