title: Mutational analysis of the feline CLN3 gene and an ultrastructural evaluation of lysosomal storage materials in a cat with neuronal ceroid lipofuscinosis: an investigation into the molecular basis of the disease.
abstract: Neuronal ceroid lipofuscinosis (NCL) is a neurodegenerative disease caused by a number of different genes. A mutational analysis of the feline CLN3 gene was performed in a cat with NCL that had vacuolated lymphocytes, which is a feature of human NCL caused by defects of the CLN3 gene. To determine the candidate gene(s) responsible for this case, NCL-specific ultrastructures of storage materials were analysed. A sequence analysis indicated that the CLN3 gene was not likely to be responsible for this case of feline NCL because no deleterious mutation was detected. An ultrastructural analysis did not reveal any candidate gene because of inconsistency with any pattern found in human NCL. These findings suggest that the diagnostic criteria for human NCL are not directly applicable to feline NCL.
authors.affiliation: Laboratory of Clinical Pathology, Joint Faculty of Veterinary Medicine, Kagoshima University, 1-21-24 Kohrimoto, Kagoshima 890-0065, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Furusawa
authors.forename: K
authors.initials: K
authors.lastname: Mizukami
authors.forename: A
authors.initials: A
authors.lastname: Yabuki
authors.forename: M
authors.initials: M
authors.lastname: Kuwamura
authors.forename: H S
authors.initials: HS
authors.lastname: Chang
authors.forename: M A
authors.initials: MA
authors.lastname: Hossain
authors.forename: M M
authors.initials: MM
authors.lastname: Rahman
authors.forename: M M
authors.initials: MM
authors.lastname: Uddin
authors.forename: S
authors.initials: S
authors.lastname: Mitani
authors.forename: O
authors.initials: O
authors.lastname: Yamato
mesh_terms: D000818:Animals; D002371:Cat Diseases / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D002415:Cats; D004252:DNA Mutational Analysis / Q000662:veterinary; D006801:Humans; D007564:Japan; D008247:Lysosomes / Q000648:ultrastructure*; D008562:Membrane Glycoproteins / Q000235:genetics* / Q000378:metabolism; D046529:Microscopy, Electron, Transmission / Q000662:veterinary; D018832:Molecular Chaperones / Q000235:genetics* / Q000378:metabolism; D008969:Molecular Sequence Data; D009472:Neuronal Ceroid-Lipofuscinoses / Q000175:diagnosis / Q000235:genetics / Q000473:pathology / Q000662:veterinary*; D017422:Sequence Analysis, DNA / Q000662:veterinary
chemical_list: D008562:Membrane Glycoproteins; D018832:Molecular Chaperones