Correction of the Gene Defect in Cystic Fibrosis: Is It Too Late for Bone? Comment

• Type of Material: Article
• Authors: Vin Tangpricha, Emory University
• Language: English
• Date: 2021-02-06
• Publisher: Endocrine Society
• Publication Version: Final Published Version
• Copyright Statement: © The Author(s) 2021. Published by Oxford University Press on behalf of the Endocrine Society.
• License: Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International
• Final Published Version (URL): http://dx.doi.org/10.1210/clinem/dgab074
• Title of Journal or Parent Work: The Journal of Clinical Endocrinology & Metabolism
• Volume: 106
• Issue: 5
• Start Page: E2359
• End Page: E2361
• Grant/Funding Information: None declared
• Keywords: Endocrinology & Metabolism; bone microarchitecture; CFTR; Life Sciences & Biomedicine; cystic fibrosis; ivacaftor; bone mineral density; Science & Technology
• Research Categories: Biology, Genetics; Health Sciences, Pathology; Health Sciences, Medicine and Surgery

Abstract

Cystic fibrosis (CF) is the most common autosomal recessive disease among Whites in the United States (1). CF results from a single mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene (1). More than 1000 mutations of the CFTR gene have been described with varying degrees of impact on the production and function of the CFTR protein. The CFTR protein is an important chloride channel responsible for the transport of chloride and water on epithelial surfaces. A mutated CFTR results in viscous secretions on epithelial surfaces that affect the respiratory, digestive, endocrine, and reproductive systems (1). Patients with CF have increased morbidity and mortality from recurrent lung infections that result in a progressive decline in lung function and eventually respiratory failure. Improvements in CF care over the past decade have led to increased prevalence of other comorbidities, including CF-related diabetes and CF-related bone disease.