Update on SLC6A14 in lung and gastrointestinal physiology and physiopathology: focus on cystic fibrosis

Manon Ruffin (1) , Julia Mercier (2) , Claire Calmel (2) , Julie Mésinèle (2) , Jeanne Bigot (2) , Erika N Sutanto (3) , Anthony Kicic (3) , Harriet Corvol (1, 4, 5) , Loïc Guillot (1)

1 Mucoviscidose: physiopathologie et phénogénomique [CRSA]
2 CRSA - Centre de Recherche Saint-Antoine
3 UWA - The University of Western Australia
4 CHU Trousseau [APHP]
5 SU FM - Sorbonne Université - Faculté de Médecine

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.

Mots clés: ATB 0; Amino acid transporter; CFTR; Nitric oxide; Pulmonary; Intestine

Domaines: Hépatologie et Gastroentérologie

Manon Ruffin, Julia Mercier, Claire Calmel, Julie Mésinèle, Jeanne Bigot, et al.. Update on SLC6A14 in lung and gastrointestinal physiology and physiopathology: focus on cystic fibrosis. Cellular and Molecular Life Sciences, 2020, 77 (17), pp.3311 - 3323. ⟨10.1007/s00018-020-03487-x⟩. ⟨hal-03047000⟩