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Novel SLC5A2 mutation contributes to familial renal glucosuria: Abnormal expression in renal tissues

  • Authors:
    • Lei Yu
    • Ping Hou
    • Guo‑Ping Liu
    • Hong Zhang
  • View Affiliations / Copyright

    Affiliations: Renal Division, Inner Mongolia People's Hospital, Hohhot, Inner Mongolia 010017, P.R. China, Renal Division, Peking University First Hospital, Peking University Institute of Nephrology, Key Laboratory of Renal Disease, Ministry of Health of China, Beijing 100034, P.R. China
    Copyright: © Yu et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Pages: 649-652
    |
    Published online on: May 25, 2016
       https://doi.org/10.3892/etm.2016.3388
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Abstract

Familial renal glucosuria (FRG) is characterized by persistent glucosuria in the presence of normal serum glucose concentrations, while other impairments of tubular function are absent. Mutations in the sodium‑glucose co-transporter 2 (SLC5A2) gene have been found to be responsible for FRG. However, direct evidence for the presence of SLC5A2 mutant in renal tissues is very rare. In previous studies, a non‑sense mutation (c.1320 G>A:p.W440X) that would cause premature termination of the protein was found. However, the effects in the renal tissues were not reported. In the current study, a patient with FRG and a urinary glucose excretion rate of 8.3 g/day is described, for whom a novel missense mutation (c.1319G>A:p.W440X) was revealed by sequencing. Furthermore, in the immunofluorescence examination of a renal biopsy specimen, SLC5A2 was detected in the apical side of the proximal convoluted tubule, discontinuously decreased in comparison with that in normal and disease controls. The results imply that both wild‑type SLC5A2 and mutant SLC5A2 with abnormal distribution were expressed in the renal tissues, and that the reduction of SLC5A2 expression and function were due to the c.1319G>A:p.W440X mutation. The current study provides valuable clues regarding the SLC5A2 molecule from genotype to phenotype in families affected by FRG.
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Copy and paste a formatted citation
Spandidos Publications style
Yu L, Hou P, Liu GP and Zhang H: Novel SLC5A2 mutation contributes to familial renal glucosuria: Abnormal expression in renal tissues. Exp Ther Med 12: 649-652, 2016.
APA
Yu, L., Hou, P., Liu, G., & Zhang, H. (2016). Novel SLC5A2 mutation contributes to familial renal glucosuria: Abnormal expression in renal tissues. Experimental and Therapeutic Medicine, 12, 649-652. https://doi.org/10.3892/etm.2016.3388
MLA
Yu, L., Hou, P., Liu, G., Zhang, H."Novel SLC5A2 mutation contributes to familial renal glucosuria: Abnormal expression in renal tissues". Experimental and Therapeutic Medicine 12.2 (2016): 649-652.
Chicago
Yu, L., Hou, P., Liu, G., Zhang, H."Novel SLC5A2 mutation contributes to familial renal glucosuria: Abnormal expression in renal tissues". Experimental and Therapeutic Medicine 12, no. 2 (2016): 649-652. https://doi.org/10.3892/etm.2016.3388
Copy and paste a formatted citation
x
Spandidos Publications style
Yu L, Hou P, Liu GP and Zhang H: Novel SLC5A2 mutation contributes to familial renal glucosuria: Abnormal expression in renal tissues. Exp Ther Med 12: 649-652, 2016.
APA
Yu, L., Hou, P., Liu, G., & Zhang, H. (2016). Novel SLC5A2 mutation contributes to familial renal glucosuria: Abnormal expression in renal tissues. Experimental and Therapeutic Medicine, 12, 649-652. https://doi.org/10.3892/etm.2016.3388
MLA
Yu, L., Hou, P., Liu, G., Zhang, H."Novel SLC5A2 mutation contributes to familial renal glucosuria: Abnormal expression in renal tissues". Experimental and Therapeutic Medicine 12.2 (2016): 649-652.
Chicago
Yu, L., Hou, P., Liu, G., Zhang, H."Novel SLC5A2 mutation contributes to familial renal glucosuria: Abnormal expression in renal tissues". Experimental and Therapeutic Medicine 12, no. 2 (2016): 649-652. https://doi.org/10.3892/etm.2016.3388
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