Retrospective Diagnosis of Feline GM2 Gangliosidosis Variant 0 (Sandhoff-Like Disease) in Japan: Possible Spread of the Mutant Allele in the Japanese Domestic Cat Population

DOI JASI Web Site Web Site 2 Citations 41 References
  • YAMATO Osamu
    Laboratory of Clinical Pathology, Department of Veterinary Clinical Sciences, Faculty of Agriculture, Kagoshima University
  • HAYASHI Daisuke
    Laboratory of Internal Medicine, Department of Veterinary Clinical Sciences, Graduate School of Veterinary Medicine, Hokkaido University
  • SATOH Hiroyuki
    Laboratory of Internal Medicine, Department of Veterinary Clinical Sciences, Graduate School of Veterinary Medicine, Hokkaido University
  • SHODA Toru
    Laboratory of Internal Medicine, Department of Veterinary Clinical Sciences, Graduate School of Veterinary Medicine, Hokkaido University
  • UCHIDA Keiko
    Ichikawabashi Hospital of Kariya Small Animal Hospital
  • NAKAYAMA Hiroyuki
    Laboratory of Veterinary Pathology, Graduate School of Agriculture and Life Sciences, the University of Tokyo
  • SAKAI Hiroki
    Laboratory of Veterinary Pathology, Department of Veterinary Medicine, Faculty of Applied Biological Sciences, Gifu University
  • MASEGI Toshiaki
    Laboratory of Veterinary Pathology, Department of Veterinary Medicine, Faculty of Applied Biological Sciences, Gifu University
  • MURAI Atsuko
    Laboratory of Veterinary Pathology, Department of Veterinary Medicine, Faculty of Applied Biological Sciences, Gifu University
  • IIDA Tsuneyoshi
    Iida Animal Clinic
  • HISADA Hiromi
    Hisada Animal Hospital
  • HISADA Atsunori
    Hisada Animal Hospital
  • YAMASAKI Masahiro
    Laboratory of Internal Medicine, Department of Veterinary Clinical Sciences, Graduate School of Veterinary Medicine, Hokkaido University
  • MAEDE Yoshimitsu
    Laboratory of Internal Medicine, Department of Veterinary Clinical Sciences, Graduate School of Veterinary Medicine, Hokkaido University
  • ARAI Toshiro
    Laboratory of Veterinary Biochemistry, School of Veterinary Medicine, Nippon Veterinary and Life Science University

Bibliographic Information

Other Title
  • 日本における猫GM2ガングリオシドーシス0亜型(サンドホフ病)の遡及的診断 : 本疾患変異アレルが日本猫集団に拡散分布している可能性がある
  • Clinical pathology: Retrospective diagnosis of feline GM2 gangliosidosis variant 0 (sandhoff-like disease) in Japan: possible spread of the mutant allele in the Japanese domestic cat population

Search this article

Abstract

GM2 gangliosidosis variant 0 (human Sandhoff disease) is a lysosomal storage disease caused by simultaneous deficiencies of acid β-hexosaminidase (Hex) A and Hex B due to an abnormality of β-subunit, a common component in these enzyme molecules, which is coded by the HEXB gene. In the present study, a retrospective diagnosis was performed in 2 previous suspected cases of feline Sandhoff-like disease using a DNA test to detect the causative mutation identified previously in 4 cats in 2 other families of Japanese domestic cats. Enzymic analysis was also performed using stored leukocytes and plasma collected from the subject families in order to investigate the usefulness of enzymic diagnosis and genotyping of carriers. The DNA test suggested that the 2 cases were homozygous recessive for the mutation. Consequently, 6 cats homozygous for the same mutation have been found in 4 separate locations of Japan, suggesting that this mutant allele may be spread widely in the Japanese domestic cat populations. In enzymic analysis, Hex A and Hex B activities in leukocytes and plasma measured using 4-methylumbelliferyl N-acetyl-β-D-glucosaminide as a substrate were negligible in affected cats, compared with those in normal and carrier cats. However, there was a wide overlap in enzyme activity between normal and carrier cats. Therefore, it was concluded that enzymic analysis is useful for diagnosis of affected cats, but is not acceptable for genotyping of carriers.<br>

Journal

Citations (2)*help

See more

References(41)*help

See more

Related Projects

See more

Keywords

Details 詳細情報について

Report a problem

Back to top