The history of so-called storage diseases goes back to the end of the 19th and to the beginning of the 20th century when Fabry, Tay, Sachs, Gaucher, Niemann, Hunter, and Hurler first described the disorders which up to now are called by their eponym. The clinical descriptions soon were followed by pathologic studies, and within a short time ,the hereditary characters of these rare afflictions came to be recognized. Although sporadic reports during the early part of this century dealt with biochemical analysis of the "stored" materials in these disorders, it was actually in the late 1930s that the abnormal deposits started to attract the increasing attention of chemists. S. H. Thannhauser brought the broad concept of lipidoses as a group of related disorders to the attention of the medical profession for the first time, and in 1939 Klenk observed that the brain of a patient with Tay-Sachs disease contained greatly increased amounts of a glycolipid for which he proposed the name "ganglioside. " 20 years has thrown new light on these afflic Work carried out in the past tions and has pinpointed the enzymatic and lipid abnormalities associated with the various "storage" diseases. Moreover, electron microscopic studies have permitted detailed investigations of the fine structure of the various organs of afflicted patients.
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ISBN-13
978-1-4615-8726-2 (9781461587262)
DOI
10.1007/978-1-4615-8726-2
Schweitzer Klassifikation
1 Historical Review.- 2 Biochemical and Clinical Aspects.- Chemical Analysis.- Distribution and Development Patterns.- Biosynthesis and Degradation.- Biological Function.- Clinical Aspects.- Storage Compounds.- Enzyme Defects.- References.- 3 Enzymes.- Tay-Sachs Disease [GM2 (B)].- Sandhoff's Disease [GM2 (0)].- The Relationship between Glycosphingolipid Accumulation in Tay-Sachs Disease Variants and Their Hexosaminidase Activity Patterns.- Detection of Tay-Sachs and Sandhoff's Disease Homozygotes and Heterozygotes.- Pre- and Postnatal Detection of Tay-Sachs Disease.- Bernheimer-Seitelberger Disease [GM2 (A,B)].- GM1-Gangliosidoses.- Summary and Conclusions.- References.- 4 Pathology.- GM2-Gangliosidoses.- Bernheimer-Seitelberger Disease (AB).- GM1-Gangliosidoses.- GM3-Gangliosidosis.- References.- 5 Epidemiology.- Mode of Inheritance.- Gene and Carrier Frequencies.- Ethnologic Characteristics.- Demography of Jewish TSD Ancestors.- Evidence for Heterozygote Advantage.- References.- 6 Cell Culture Studies.- The Biology of Human Cells.- Amniocentesis and Amniotic Cell Culture.- Other Cells from Antenates and Neonates.- Enzymatic Defects.- Histochemistry and Morphology.- Gangliosides in Cultured Cells.- Culture of Neural Tissue.- The TSD Fibroblast as an Experimental Model.- Conclusion and Prospectus.- References.- 7 Spontaneous Gangliosidoses in Animals.- GM2-Gangliosidosis.- GM1-Gangliosidosis.- GM3-Gangliosidosis.- Conclusion.- References.- Appendix A Methodology: Sphingolipid Analysis.- Linda M. Hoffman, Larry Schneck.- Extraction of the Sample.- Separation of Gangliosides and Other Lipids.- Further Purification of the Ganglioside Fractions by Alkaline Methanolysis.- Thin-Layer Chromatography of Gangliosides.- Silicic Acid Column Chromatography.- FurtherPurification of the Glycolipid Fraction.- Thin-Layer Chromatography of Hexosylceramides.- Thin-Layer Chromatography of the Phospholipid Fraction Obtained from Silicic Acid Chromatography.- Further Characterization of Glycosphingolipids by Gas-Liquid Chromatography.- Methanolysis Conditions.- GLC of Fatty Acid Methyl Esters.- Preparation of Methyl Glycosides for GLC.- GLC of the Trimethylsilyl Derivatives of Methyl Glycosides.- References.- Appendix B Methodology: Enzyme Chemistry.- Guta Perle, Abraham Saifer.- Methods for the Pre- and Postnatal Detection of TSD Heterozygotes (Carriers) and Homozygotes (Patients) by Means of Hexosaminidase Analysis of Their Biological Fluids and Tissues.- Hex A Analysis of Biological Fluids with the Heat-Fractionation Method for the Detection of TSD Heterozygotes and Homozygotes.- Leukocyte, Amniotic Fluid, and Amniotic Cell Hex A Analysis by Acrylamide Gel Electrophoresis for the Detection of TSD Heterozygotes and Homozygotes.- References.- Appendix C Methodology: Histochemistry.- Masazumi Adachi, Bruno W. Volk.- Lipids.- Carbohydrates.- Proteins.- References.- Appendix D Methodology: Electron Microscopy.- Masazumi Adach, Bruno W. Volk.- Tissues.- Uncultured Cells from Amniotic Fluid.- Cultured Cells from Amniotic Fluid.- References.- Appendix E Methodology: Cell Culture.- Daniel Amsterdam, Steven E. Brooks.- Culture of Amniotic Fluid.- Primary Explant Technique.- Preservation of Cells for Long-Term Storage in Liquid Nitrogen.- Enumeration of Viable Cells.- Roller Culture for Mass Growth of Diploid Cells.- Reference.- Conclusions.
