Feline cystinuria caused by a missense mutation in the SLC3A1 gene.

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  • Author(s): Mizukami K;Mizukami K; Raj K; Giger U
  • Source:
    Journal of veterinary internal medicine [J Vet Intern Med] 2015 Jan; Vol. 29 (1), pp. 120-5. Date of Electronic Publication: 2014 Nov 24.
  • Publication Type:
    Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
  • Language:
    English
  • Additional Information
    • Source:
      Publisher: Wiley Periodicals Country of Publication: United States NLM ID: 8708660 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1939-1676 (Electronic) Linking ISSN: 08916640 NLM ISO Abbreviation: J Vet Intern Med Subsets: MEDLINE
    • Publication Information:
      Publication: <2010-> : Malden, MA : Wiley Periodicals
      Original Publication: Philadelphia : J.B. Lippincott Co., [c1987-
    • Subject Terms:
      Amino Acid Transport Systems, Basic/*genetics ; Amino Acid Transport Systems, Neutral/*genetics ; Cat Diseases/*genetics ; Cystinuria/*veterinary; Amino Acid Sequence ; Amino Acid Transport Systems, Basic/metabolism ; Amino Acid Transport Systems, Neutral/metabolism ; Animals ; Cats ; Cystinuria/genetics ; Genetic Predisposition to Disease ; Genotype ; Male ; Mutation, Missense ; Polymorphism, Genetic
    • Abstract:
      Background: Cystinuria is an inherited metabolic disease that is relatively common in dogs, but rare in cats and is characterized by defective amino acid reabsorption, leading to cystine urolithiasis.
      Objectives: The aim of this study was to report on a mutation in a cystinuric cat.
      Animals: A male domestic shorthair (DSH) cat with cystine calculi, 11 control cats from Wyoming, and 54 DSH and purebred control cats from elsewhere in the United States.
      Methods: Exons of the SLC3A1 gene were sequenced from genomic DNA of the cystinuric cat and a healthy cat. Genetic screening for the discovered polymorphisms was conducted on all cats.
      Results: A DSH cat showed stranguria beginning at 2 months of age, and cystine calculi were removed at 4 months of age. The cat was euthanized at 6 months of age because of neurological signs possibly related to arginine deficiency. Twenty-five SLC3A1 polymorphisms were observed in the sequenced cats when compared to the feline reference sequence. The cystinuric cat was homozygous for 5 exonic and 8 noncoding SLC3A1 polymorphisms, and 1 of them was a unique missense mutation (c.1342C>T). This mutation results in a deleterious amino acid substitution (p.Arg448Trp) of a highly conserved arginine residue in the rBAT protein encoded by the SLC3A1 gene. This mutation was found previously in cystinuric human patients, but was not seen in any other tested cats.
      Conclusions and Clinical Importance: This study is the first report of an SLC3A1 mutation causing cystinuria in a cat, and could be used to characterize other cystinuric cats at the molecular level.
      (Copyright © 2014 by the American College of Veterinary Internal Medicine.)
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    • Grant Information:
      P40 OD010939 United States OD NIH HHS; P40 RR002512 United States RR NCRR NIH HHS; OD 010939 United States OD NIH HHS
    • Contributed Indexing:
      Keywords: Hereditary disease; Metabolic disease; Nephropathy; Urolithiasis
    • Accession Number:
      0 (Amino Acid Transport Systems, Basic)
      0 (Amino Acid Transport Systems, Neutral)
    • Publication Date:
      Date Created: 20141125 Date Completed: 20151019 Latest Revision: 20181113
    • Publication Date:
      20221213
    • Accession Number:
      PMC4858075
    • Accession Number:
      10.1111/jvim.12501
    • Accession Number:
      25417848