Influence of Familial Renal Glycosuria Due to Mutations in the SLC5A2 Gene on Changes in Glucose Tolerance over Time

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Ottosson-Laakso , E , Tuomi , T , Forsen , B , Gullstrom , M , Groop , P-H , Groop , L & Vikman , P 2016 , ' Influence of Familial Renal Glycosuria Due to Mutations in the SLC5A2 Gene on Changes in Glucose Tolerance over Time ' PLoS One , vol. 11 , no. 1 , 0146114 . DOI: 10.1371/journal.pone.0146114

Title: Influence of Familial Renal Glycosuria Due to Mutations in the SLC5A2 Gene on Changes in Glucose Tolerance over Time
Author: Ottosson-Laakso, Emilia; Tuomi, Tiinamaija; Forsen, Bjorn; Gullstrom, Monika; Groop, Per-Henrik; Groop, Leif; Vikman, Petter
Contributor: University of Helsinki, Institute for Molecular Medicine Finland
University of Helsinki, Department of Medicine
University of Helsinki, Institute for Molecular Medicine Finland
Date: 2016-01-06
Language: eng
Number of pages: 13
Belongs to series: PLoS One
ISSN: 1932-6203
URI: http://hdl.handle.net/10138/160584
Abstract: Familial renal glycosuria is an inherited disorder resulting in glucose excretion in the urine despite normal blood glucose concentrations. It is most commonly due to mutations in the SLC5A2 gene coding for the glucose transporter SGLT2 in the proximal tubule. Several drugs have been introduced as means to lower glucose in patients with type 2 diabetes targeting SGLT2 resulting in renal glycosuria, but no studies have addressed the potential effects of decreased renal glucose reabsorption and chronic glycosuria on the prevention of glucose intolerance. Here we present data on a large pedigree with renal glycosuria due to two mutations (c.300-303+2del and p.A343V) in the SLC5A2 gene. The mutations, which in vitro affected glucose transport in a cell line model, and the ensuing glycosuria were not associated with better glycemic control during a follow-up period of more than 10 years. One individual, who was compound heterozygous for mutations in the SLC5A2 gene suffered from severe urogenital candida infections and postprandial hypoglycemia. In conclusion, in this family with familial glycosuria we did not find any evidence that chronic loss of glucose in the urine would protect from deterioration of the glucose tolerance over time.
Subject: SWISS-MODEL REPOSITORY
DNA-SEQUENCING DATA
INSULIN SENSITIVITY
SGLT2
DAPAGLIFLOZIN
TRANSPORTERS
INHIBITION
SECRETION
FRAMEWORK
HISTORY
3111 Biomedicine
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