Open AccessGenetic Variation of SCNN1A Influences Lung Diffusing Capacity in Cystic Fibrosis
Author(s) -
Sarah E. Baker,
Eric C. Wong,
Courtney M. Wheatley,
William T. Foxx-Lupo,
Melissa A. Martínez,
Mary Morgan,
Ryan Sprissler,
Wayne J. Morgan,
Eric M. Snyder
Publication year - 2012
Publication title -
medicine and science in sports and exercise
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.703
H-Index - 224
eISSN - 1530-0315
pISSN - 0195-9131
DOI - 10.1249/mss.0b013e318266ebc3
Subject(s) - cystic fibrosis , diffusing capacity , pulmonary diffusing capacity , lung , medicine , lung function
Epithelial Na channels (ENaCs) play a crucial role in ion and fluid regulation in the lung. In cystic fibrosis (CF), Na hyperabsorption results from ENaC overactivity, leading to airway dehydration. Previous work has demonstrated functional genetic variation of SCNN1A (the gene encoding the ENaC α-subunit), manifesting as an alanine (A) to threonine (T) substitution at amino acid 663, with the αT663 variant resulting in a more active channel.