Update on SLC6A14 in lung and gastrointestinal physiology and physiopathology: focus on cystic fibrosis.
Manon RuffinJulia MercierClaire CalmelJulie MésinèleJeanne BigotErika N SutantoAnthony KicicHarriet CorvolLoic GuillotPublished in: Cellular and molecular life sciences : CMLS (2020)
The solute carrier family 6 member 14 (SLC6A14) protein imports and concentrates all neutral amino acids as well as the two cationic acids lysine and arginine into the cytoplasm of different cell types. Primarily described as involved in several cancer and colonic diseases physiopathological mechanisms, the SLC6A14 gene has been more recently identified as a genetic modifier of cystic fibrosis (CF) disease severity. It was indeed shown to have a pleiotropic effect, modulating meconium ileus occurrence, lung disease severity, and precocity of P. aeruginosa airway infection. The biological mechanisms explaining the impact of SLC6A14 on intestinal and lung phenotypes of CF patients are starting to be elucidated. This review focuses on SLC6A14 in lung and gastrointestinal physiology and physiopathology, especially its involvement in the pathophysiology of CF disease.
Keyphrases
- cystic fibrosis
- pseudomonas aeruginosa
- amino acid
- lung function
- end stage renal disease
- ejection fraction
- risk assessment
- single cell
- newly diagnosed
- signaling pathway
- copy number
- papillary thyroid
- peritoneal dialysis
- nitric oxide
- squamous cell carcinoma
- stem cells
- small molecule
- cell therapy
- prognostic factors
- chronic obstructive pulmonary disease
- young adults
- ulcerative colitis
- bone marrow
- lymph node metastasis