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

Cell Mol Life Sci. 2020 Sep;77(17):3311-3323. doi: 10.1007/s00018-020-03487-x. Epub 2020 Mar 12.

Abstract

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.

Keywords: ATB0,+; Amino acid transporter; CFTR; Intestine; Nitric oxide; Pulmonary.

Publication types

  • Review

MeSH terms

  • Amino Acid Transport Systems / genetics
  • Amino Acid Transport Systems / metabolism*
  • Colonic Diseases / genetics
  • Colonic Diseases / metabolism
  • Colonic Diseases / pathology
  • Cystic Fibrosis / genetics
  • Cystic Fibrosis / metabolism
  • Cystic Fibrosis / pathology*
  • Gastrointestinal Tract / metabolism*
  • Genetic Variation
  • Humans
  • Linkage Disequilibrium
  • Lung / metabolism*
  • Neoplasms / genetics
  • Neoplasms / metabolism
  • Neoplasms / pathology
  • Severity of Illness Index

Substances

  • Amino Acid Transport Systems
  • SLC6A14 protein, human