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Differential Effects of Sucrase-Isomaltase Mutants on Its Trafficking and Function in Irritable Bowel Syndrome: Similarities to Congenital Sucrase-Isomaltase Deficiency

1
Department of Biochemistry, University of Veterinary Medicine Hannover, Bünteweg 17, 30559 Hannover, Germany
2
Department of Natural Sciences, Lebanese American University, Beirut 1102-2801, Lebanon
*
Author to whom correspondence should be addressed.
Nutrients 2021, 13(1), 9; https://doi.org/10.3390/nu13010009
Received: 17 November 2020 / Revised: 14 December 2020 / Accepted: 18 December 2020 / Published: 22 December 2020
(This article belongs to the Special Issue Advances in Inherited Metabolic Disorders)
Congenital sucrase-isomaltase deficiency (CSID) is a rare metabolic intestinal disorder with reduced or absent activity levels of sucrase-isomaltase (SI). Interestingly, the main symptoms of CSID overlap with those in irritable bowel syndrome (IBS), a common functional gastrointestinal disorder with unknown etiology. Recent advances in genetic screening of IBS patients have revealed rare SI gene variants that are associated with IBS. Here, we investigated the biochemical, cellular and functional phenotypes of several of these variants. The data demonstrate that the SI mutants can be categorized into three groups including immature, mature but slowly transported, and finally mature and properly transported but with reduced enzymatic activity. We also identified SI mutant phenotypes that are deficient but generally not as severe as those characterized in CSID patients. The variable effects on the trafficking and function of the mutations analyzed in this study support the view that both CSID and IBS are heterogeneous disorders, the severity of which is likely related to the biochemical phenotypes of the SI mutants as well as the environment and diet of patients. Our study underlines the necessity to screen for SI mutations in IBS patients and to consider enzyme replacement therapy as an appropriate therapy as in CSID. View Full-Text
Keywords: sucrase-isomaltase; congenital sucrase-isomaltase deficiency; irritable bowel syndrome; protein trafficking sucrase-isomaltase; congenital sucrase-isomaltase deficiency; irritable bowel syndrome; protein trafficking
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MDPI and ACS Style

Husein, D.M.; Rizk, S.; Naim, H.Y. Differential Effects of Sucrase-Isomaltase Mutants on Its Trafficking and Function in Irritable Bowel Syndrome: Similarities to Congenital Sucrase-Isomaltase Deficiency. Nutrients 2021, 13, 9. https://doi.org/10.3390/nu13010009

AMA Style

Husein DM, Rizk S, Naim HY. Differential Effects of Sucrase-Isomaltase Mutants on Its Trafficking and Function in Irritable Bowel Syndrome: Similarities to Congenital Sucrase-Isomaltase Deficiency. Nutrients. 2021; 13(1):9. https://doi.org/10.3390/nu13010009

Chicago/Turabian Style

Husein, Diab M., Sandra Rizk, and Hassan Y. Naim 2021. "Differential Effects of Sucrase-Isomaltase Mutants on Its Trafficking and Function in Irritable Bowel Syndrome: Similarities to Congenital Sucrase-Isomaltase Deficiency" Nutrients 13, no. 1: 9. https://doi.org/10.3390/nu13010009

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