Chemical compositions of brain and myelin in two patients with multiple sulphatase deficiency (a variant form of metachromatic leukodystrophy).
The lipid composition of the brain, including myelin, was studied in detail in two cases with a variant form of metachromatic leukodystrophy (multiple sulphatase deficiency type). In the white matter, the sulphatide concentration was 3-4 times higher than the normal level in both cases. There was a significant accumulation of cholesterol sulphate in the brain, liver and kidney of both cases. The ganglioside pattern in the grey and white matter was abnormal, with a higher proportion of GM3, GM2 and GD3-gangliosides. Non-lipid hexosamine contents were increased 1.5-2 times in brain, 8-10 times in liver and 2-3 times in kidney. Increased amounts of glucocerobroside, ceramide lactoside and ceramide trihexoside were present in grey and white matter of both cases. Recovery of purified myelin from two patients' brains was much less than from control (1-2% in case 1 and 20-30% in case 2). The lipid composition of myelin was almost normal except for a higher proportion of sulphatide, with a decreased amount of cerebroside. The fatty acid compositions of myelin sulphatide and sphingomyelin were almost normal, while non-hydroxy fatty acids of cerebroside contained less long-chain fatty acids, as characterized by a significant increase of C16:0 and C18:0 fatty acids. The myelin polypeptide pattern by SDS-disc gel electrophoresis showed a relative decrease of basic protein and of proteolipid protein. A possible mechanism of myelin loss in MSD is discussed.
Eto
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Y
Department of Pediatrics, University of Berne, Switzerland.
Meier
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C
Herschkowitz
N N
NN
D015703:Antigens, CD; D001923:Brain Chemistry; D002554:Cerebrosides / Q000032:analysis; D002648:Child; D002675:Child, Preschool; D002788:Cholesterol Esters / Q000032:analysis; D004591:Electrophoresis, Polyacrylamide Gel; D005227:Fatty Acids / Q000032:analysis; D005260:Female; D005732:Gangliosides / Q000032:analysis; D005963:Glucosylceramides / Q000032:analysis; D006028:Glycosphingolipids / Q000032:analysis; D006595:Hexosamines / Q000032:analysis; D006801:Humans; D007668:Kidney / Q000737:chemistry; D007790:Lactosylceramides / Q000032:analysis; D008099:Liver / Q000737:chemistry; D008297:Male; D009186:Myelin Sheath / Q000737:chemistry* / Q000648:ultrastructure; D013106:Sphingolipidoses / Q000378:metabolism*; D013433:Sulfoglycosphingolipids / Q000032:analysis
D015703:Antigens, CD; D002554:Cerebrosides; D002788:Cholesterol Esters; D005227:Fatty Acids; D005732:Gangliosides; D005963:Glucosylceramides; D006028:Glycosphingolipids; D006595:Hexosamines; D007790:Lactosylceramides; D013433:Sulfoglycosphingolipids; C088880:ceramide trihexoside; C009744:CDw17 antigen; C007045:cholesteryl sulfate