CFTR High Expresser Cells in Cystic Fibrosis and Intestinal Diseases

Overview

Journal Heliyon

Specialty Social Sciences

Date 2023 Mar 27

PMID 36967909

Authors

Diego Carlos Dos Reis

Parinaz Dastoor

Anderson Kenedy Santos

Kaelyn Sumigray

Nadia A Ameen

Affiliations

Soon will be listed here.

Abstract

Cystic Fibrosis Transmembrane Conductance Regulator (CFTR), the Cl/HCO channel implicated in Cystic Fibrosis, is critical to the pathophysiology of many gastrointestinal diseases. Defects in CFTR lead to intestinal dysfunction, malabsorption, obstruction, infection, inflammation, and cancer that increases morbidity and reduces quality of life. This review will focus on CFTR in the intestine and the implications of the subpopulation of CFTR High Expresser Cells (CHEs) in Cystic Fibrosis (CF), intestinal physiology and pathophysiology of intestinal diseases.

Citing Articles

CFTR High Expresser BEST4+ cells are pH-sensing neuropod cells: new implications for intestinal physiology and Cystic Fibrosis disease.

Dos Reis D, Jin J, Santos A, Muiler C, Zagoren E, Donnelley M bioRxiv. 2025; .

PMID: 39974899 PMC: 11838207. DOI: 10.1101/2025.01.24.634747.

Impaired intestinal free fatty acid transport followed by chylomicron malformation, not pancreatic insufficiency, cause metabolic defects in cystic fibrosis.

Teng L, Dedousis N, Adeshirlarijaney A, Kanshana J, Liu M, Hodges C J Lipid Res. 2024; 65(7):100551.

PMID: 39002195 PMC: 11301217. DOI: 10.1016/j.jlr.2024.100551.

Wang J, Wang H, Ding Y, Jiao X, Zhu J, Zhai Z Sci Rep. 2024; 14(1):9115.

PMID: 38643300 PMC: 11032381. DOI: 10.1038/s41598-024-59464-y.

BEST4 cells in the intestinal epithelium.

Malonga T, Vialaneix N, Beaumont M Am J Physiol Cell Physiol. 2024; 326(5):C1345-C1352.

PMID: 38557358 PMC: 11371329. DOI: 10.1152/ajpcell.00042.2024.

Cystic Fibrosis and Cancer: Unraveling the Complex Role of CFTR Gene in Cancer Susceptibility.

Parisi G, Papale M, Pecora G, Rotolo N, Manti S, Russo G Cancers (Basel). 2023; 15(17).

PMID: 37686519 PMC: 10486401. DOI: 10.3390/cancers15174244.

References

Anderson M, Gregory R, Thompson S, Souza D, Paul S, Mulligan R . Demonstration that CFTR is a chloride channel by alteration of its anion selectivity. Science. 1991; 253(5016):202-5. DOI: 10.1126/science.1712984. View

Davidson G, Cutz E, Hamilton J, Gall D . Familial enteropathy: a syndrome of protracted diarrhea from birth, failure to thrive, and hypoplastic villus atrophy. Gastroenterology. 1978; 75(5):783-90. View

Kravtsov D, Caputo C, Collaco A, Hoekstra N, Egan M, Mooseker M . Myosin Ia is required for CFTR brush border membrane trafficking and ion transport in the mouse small intestine. Traffic. 2012; 13(8):1072-82. PMC: 3396755. DOI: 10.1111/j.1600-0854.2012.01368.x. View

Busslinger G, Weusten B, Bogte A, Begthel H, Brosens L, Clevers H . Human gastrointestinal epithelia of the esophagus, stomach, and duodenum resolved at single-cell resolution. Cell Rep. 2021; 34(10):108819. DOI: 10.1016/j.celrep.2021.108819. View

Esaki M, Hoshijima K, Nakamura N, Munakata K, Tanaka M, Ookata K . Mechanism of development of ionocytes rich in vacuolar-type H(+)-ATPase in the skin of zebrafish larvae. Dev Biol. 2009; 329(1):116-29. PMC: 2751791. DOI: 10.1016/j.ydbio.2009.02.026. View

Bardou M, Barkun A, Martel M . Obesity and colorectal cancer. Gut. 2013; 62(6):933-47. DOI: 10.1136/gutjnl-2013-304701. View

Kurth I, Hentschke M, Hentschke S, Borgmeyer U, Gal A, Hubner C . The forkhead transcription factor Foxi1 directly activates the AE4 promoter. Biochem J. 2005; 393(Pt 1):277-83. PMC: 1383686. DOI: 10.1042/BJ20051094. View

Kim T, Shivdasani R . Genetic evidence that intestinal Notch functions vary regionally and operate through a common mechanism of Math1 repression. J Biol Chem. 2011; 286(13):11427-33. PMC: 3064198. DOI: 10.1074/jbc.M110.188797. View

Honda K, Kim S, Kelly M, Burns J, Constance L, Li X . Molecular architecture underlying fluid absorption by the developing inner ear. Elife. 2017; 6. PMC: 5634787. DOI: 10.7554/eLife.26851. View

10.

Bonhoure A, Boudreau V, Litvin M, Colomba J, Bergeron C, Mailhot M . Overweight, obesity and significant weight gain in adult patients with cystic fibrosis association with lung function and cardiometabolic risk factors. Clin Nutr. 2020; 39(9):2910-2916. DOI: 10.1016/j.clnu.2019.12.029. View

11.

Shah V, Chivukula R, Lin B, Waghray A, Rajagopal J . Cystic Fibrosis and the Cells of the Airway Epithelium: What Are Ionocytes and What Do They Do?. Annu Rev Pathol. 2021; 17:23-46. PMC: 10837786. DOI: 10.1146/annurev-pathol-042420-094031. View

12.

Yang T, Vidarsson H, Rodrigo-Blomqvist S, Rosengren S, Enerback S, Smith R . Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4). Am J Hum Genet. 2007; 80(6):1055-63. PMC: 1867094. DOI: 10.1086/518314. View

13.

Janicke M, Carney T, Hammerschmidt M . Foxi3 transcription factors and Notch signaling control the formation of skin ionocytes from epidermal precursors of the zebrafish embryo. Dev Biol. 2007; 307(2):258-71. DOI: 10.1016/j.ydbio.2007.04.044. View

14.

Abraham J, Taylor C . Cystic Fibrosis & disorders of the large intestine: DIOS, constipation, and colorectal cancer. J Cyst Fibros. 2017; 16 Suppl 2:S40-S49. DOI: 10.1016/j.jcf.2017.06.013. View

15.

Hamra F, Fan X, Krause W, Freeman R, Chin D, Smith C . Prouroguanylin and proguanylin: purification from colon, structure, and modulation of bioactivity by proteases. Endocrinology. 1996; 137(1):257-65. DOI: 10.1210/endo.137.1.8536621. View

16.

Birbe R, Palazzo J, Walters R, Weinberg D, Schulz S, Waldman S . Guanylyl cyclase C is a marker of intestinal metaplasia, dysplasia, and adenocarcinoma of the gastrointestinal tract. Hum Pathol. 2005; 36(2):170-9. DOI: 10.1016/j.humpath.2004.12.002. View

17.

Lucas K, Pitari G, Kazerounian S, Ruiz-Stewart I, Park J, Schulz S . Guanylyl cyclases and signaling by cyclic GMP. Pharmacol Rev. 2000; 52(3):375-414. View

18.

Kravtsov D, Ahsan M, Kumari V, van Ijzendoorn S, Reyes-Mugica M, Kumar A . Identification of intestinal ion transport defects in microvillus inclusion disease. Am J Physiol Gastrointest Liver Physiol. 2016; 311(1):G142-55. PMC: 4967175. DOI: 10.1152/ajpgi.00041.2016. View

19.

Trezise A, Buchwald M . In vivo cell-specific expression of the cystic fibrosis transmembrane conductance regulator. Nature. 1991; 353(6343):434-7. DOI: 10.1038/353434a0. View

20.

Goodman B, Percy W . CFTR in cystic fibrosis and cholera: from membrane transport to clinical practice. Adv Physiol Educ. 2005; 29(2):75-82. DOI: 10.1152/advan.00035.2004. View