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Demonstration of an alteration of ganglioside metabolism in Tay-Sachs disease
Authors:E H Kolodny  R O Brady  B W Volk
Affiliation:1. Department of Gastroenterology, Tel-Aviv Medical Center, Tel-Aviv, Israel and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel;2. Shaare Zedek Medical Center, and Hebrew University-Hadassah Medical School, Jerusalem, Israel;3. Department of Statistics and Operations Research, Faculty of Exact Sciences, Tel Aviv University, Israel;4. Institute of Thrombosis and Hemostasis, Sheba Medical Center, Tel - Hashomer and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel;1. Department of Pediatrics, Ehime University Graduate School of Medicine, Shitsukawa, Toon, Ehime 791-0295, Japan;2. Department of Pediatrics, Ehime prefectural Imabari Hospital, 3-1-1, Ishii-cho, Imabari, Ehime 792-0042, Japan;3. Department of Pediatrics, Ehime prefectural Niihama Hospital, 4-5-5, Hongo, Niihama, Ehime 794-0006, Japan;4. Department of Pediatrics, Ehime Rehabilitation Center for Children, 2135, Tanokubo, Toon, Ehime 791-0212, Japan;5. Department of Genome Pathology, Ehime University Graduate School of Medicine, Shitsukawa, Toon, Ehime 791-0295, Japan;1. Department of Metabolism and Clinical Genetics, Mother and Child Health Care Institute of Serbia “Dr Vukan Cupic”, Radoja Dakica Street 6-8, 11070 Belgrade, Serbia;2. Department of Clinical Pathology, Mother and Child Health Care Institute of Serbia “Dr Vukan Cupic”, Radoja Dakica Street 6-8, 11070 Belgrade, Serbia;3. University of Banja Luka, School of Medicine, Save Mrkalja 14, 78000 Banjaluka, Bosnia and Herzegovina;4. University of Belgrade, School of Medicine, Dr Subotica 8, 11000, Belgrade, Serbia;5. Department of Pediatric Surgery, Mother and Child Health Care Institute of Serbia “Dr Vukan Cupic”, Radoja Dakica Street 6-8, 11070 Belgrade, Serbia;1. Unit of Rare Diseases, Department of Pediatrics, G. Gaslini Institute, Genoa, Italy;2. Department of Haematology-Oncology, G. Gaslini Institute, Genoa, Italy;3. Unit of Anatomical Pathology, G. Gaslini Institute, Genoa, Italy;1. Prof. C. A. Hart Translational Research Laboratory, Instituto de Medicina Integral Prof. Fernando Figueira (IMIP), Recife, Brazil;2. Medical Genetics Service, Hospital das Clínicas de Porto Alegre, Brazil;3. Genetics Department, Universidade Federal do Rio Grande do Sul, Brazil
Abstract:It has been shown through the use of specifically labeled Tay-Sachs ganglioside that normal human muscle tissue contains enzymes which catalyze the hydrolysis of the N-acetylneuraminyl and N-acetylgalactosaminyl moieties of this ganglioside. The hydrolysis of the N-acetylneuraminyl moiety in muscle preparations from patients with Tay-Sachs disease was similar to that of the controls. The enzyme which catalyzes the hydrolysis of the N-acetylgalactosaminyl moiety was completely absent in preparations from patients with Tay-Sachs disease.
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