title: Increased concentration of GM1-ganglioside in cerebrospinal fluid in dogs with GM1- and GM2-gangliosidoses and its clinical application for diagnosis.
abstract: GM1- and GM2-gangliosidoses are lethal lysosomal diseases that are caused by a defect of acid hydrolases, resulting in the intralysosomal accumulation of the specific physiological substrates, GM1- and GM2-gangliosides, respectively. In the present study a method for the diagnosis of canine GM1-gangliosidosis was established using canine cerebrospinal fluid (CSF). The concentration of GM1-ganglioside in CSF was determined by thin-layer chromatography-enzyme immunostaining using biotin-conjugated cholera toxin B, which specifically binds with GM1-ganglioside. The concentration of CSF GM1-ganglioside was increased in Shiba dogs with GM1-gangliosidosis, and the increased level was approximately proportional to the age of the dogs. The concentration was high in the affected dog even at 5 months of age, when Shiba dogs with GM1-gangliosidosis first manifest neurologic signs. In addition, the concentration of CSF GM1-ganglioside in a dog with the GM2-gangliosidosis 0 variant (Sandhoff disease) was also 7 times the normal level. From these results it was concluded that this laboratory technique enables a definitive and early diagnosis of canine GM1-gangliosidosis even if tissues and organs cannot be obtained. However, because GM1-ganglioside can also be elevated in cases of GM2-gangliosidosis, it is necessary to assay for specific enzyme deficiencies to definitively separate GM1- from GM2-gangliosidosis.
authors.affiliation: Laboratory of Internal Medicine, Department of Veterinary Clinical Sciences, Graduate School of Veterinary Medicine, Hokkaido University, Sapporo 060-0818, Japan.
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Satoh
authors.forename: Osamu
authors.initials: O
authors.lastname: Yamato
authors.forename: Tomoya
authors.initials: T
authors.lastname: Asano
authors.forename: Masahiro
authors.initials: M
authors.lastname: Yamasaki
authors.forename: Yoshimitsu
authors.initials: Y
authors.lastname: Maede
mesh_terms: D000818:Animals; D002772:Cholera Toxin / Q000378:metabolism; D002855:Chromatography, Thin Layer / Q000662:veterinary; D004283:Dog Diseases / Q000134:cerebrospinal fluid*; D004285:Dogs; D005677:G(M1) Ganglioside / Q000134:cerebrospinal fluid*; D016537:Gangliosidosis, GM1 / Q000134:cerebrospinal fluid / Q000175:diagnosis / Q000662:veterinary*; D007124:Immunoenzyme Techniques / Q000379:methods / Q000662:veterinary*
chemical_list: D005677:G(M1) Ganglioside; D002772:Cholera Toxin