Advertisement
Research Article

A One Base Pair Deletion in the Canine ATP13A2 Gene Causes Exon Skipping and Late-Onset Neuronal Ceroid Lipofuscinosis in the Tibetan Terrier

  • Anne Wöhlke,

    Affiliation: Institute for Animal Breeding and Genetics, University of Veterinary Medicine Hannover, Hannover, Germany

    X
  • Ute Philipp,

    Affiliation: Institute for Animal Breeding and Genetics, University of Veterinary Medicine Hannover, Hannover, Germany

    X
  • Patricia Bock,

    Affiliation: Department of Pathology, University of Veterinary Medicine Hannover, Hannover, Germany

    X
  • Andreas Beineke,

    Affiliation: Department of Pathology, University of Veterinary Medicine Hannover, Hannover, Germany

    X
  • Peter Lichtner,

    Affiliation: Helmholtz Zentrum München, Institute of Human Genetics, Neuherberg, Germany

    X
  • Thomas Meitinger,

    Affiliations: Helmholtz Zentrum München, Institute of Human Genetics, Neuherberg, Germany, Technische Universität München, Institute of Human Genetics, München, Germany

    X
  • Ottmar Distl mail

    ottmar.distl@tiho-hannover.de

    Affiliation: Institute for Animal Breeding and Genetics, University of Veterinary Medicine Hannover, Hannover, Germany

    X
  • Published: October 13, 2011
  • DOI: 10.1371/journal.pgen.1002304

Reader Comments (1)

Post a new comment on this article

Late-onset NCL in dogs

Posted by odistl on 16 Dec 2011 at 18:23 GMT

Tibetan terriers provide a valuable model for late-onset NCL as no causative mutation for late onset NCL is known in human and other species.
http://plosgenetics.org/article/info:doi/10.1371/journal.pgen.1002304#article1.body1.sec1.p2

A canine arylsulfatase G (ARSG) mutation leading to a sulfatase deficiency has been identified in American Staffordshire terriers (AST) and this variant might be part of the NCL pathogenesis [29]. Inclusion material highly suggestive for ceroid lipofuscin was observed in Purkinje cells and further cells of the brain. However, unlike in all other NCL dog models, lipofuscinosis was not seen in retina, conjunctiva and other cells throughout the body. Thus, the AST-NCL model may resemble a more specific form of NCL and further research is necessary to confirm this model.

29. Abitbol M, Thibaud JL, Olby NJ, Hitte C, Puech JP, et al. (2010) A canine Arylsulfatase G (ARSG) mutation leading to a sulfatase deficiency is associated with neuronal ceroid lipofuscinosis.
Proc Natl Acad Sci USA 107: 14775-14780.

No competing interests declared.