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

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

Manon Ruffin  1 , Julia Mercier  1 , Claire Calmel  1 , Julie Mésinèle  1 , Jeanne Bigot  1 , Erika N Sutanto  2   3 , Anthony Kicic  2   3   4   5 , Harriet Corvol  6   7 , Loic Guillot  1
Affiliations
Review

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

Manon Ruffin et al. Cell Mol Life Sci. 2020 Sep.

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.

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Figures

Fig. 1
Fig. 1
Linkage disequilibrium (LD) pattern of the twelve SLC6A14 genetic variants studied. The dark red squares indicate pairs in strong LD. R2 are from https://ldlink.nci.nih.gov
Fig. 2
Fig. 2
Proposed mechanism of the role of SLC6A14 in the host response against P. aeruginosa. AA amino acids, Na+ sodium ions, Cl− chloride ions
Fig. 3
Fig. 3
Relationships between SLC6A14, F508del-CFTR, and nitric oxide signaling pathway. CF cystic fibrosis, ASL airway surface liquid, AA amino acids, Na+ sodium ions, Cl− chloride ions, HCO3- bicarbonate ions, iNOS inducible NO synthetase, NO nitric oxide
See this image and copyright information in PMC

References

    1. Kerem B, Rommens JM, Buchanan JA, Markiewicz D, Cox TK, et al. Identification of the cystic fibrosis gene: genetic analysis. Science. 1989;245(4922):1073–1080. doi: 10.1126/science.2570460. - DOI - PubMed
    1. Riordan JR, Rommens JM, Kerem B, Alon N, Rozmahel R, et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science. 1989;245(4922):1066–1073. doi: 10.1126/science.2475911. - DOI - PubMed
    1. Rommens JM, Iannuzzi MC, Kerem B, Drumm ML, Melmer G, et al. Identification of the cystic fibrosis gene: chromosome walking and jumping. Science. 1989;245(4922):1059–1065. doi: 10.1126/science.2772657. - DOI - PubMed
    1. Kerem E, Viviani L, Zolin A, MacNeill S, Hatziagorou E, et al. Factors associated with FEV1 decline in cystic fibrosis: analysis of the ECFS patient registry. Eur Respir J. 2014;43(1):125–133. doi: 10.1183/09031936.00166412. - DOI - PubMed
    1. Cutting GR. Cystic fibrosis genetics: from molecular understanding to clinical application. Nat Rev Genet. 2015;16(1):45–56. doi: 10.1038/nrg3849. - DOI - PMC - PubMed

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