Pelizaeus-Merzbacher Disease: Biochemical Analysis of Isolated Myelin (Electron-Microscopy;Protein, Lipid and Unsubstituted Fatty Acids Analysis)

Abstract

Analysis of myelin from leukodystrophic human brain was performed (Pelizaeus-Merzbacher disease, classical type). Myelin recovery was 7% of normal, when isolated by ultracentrifugation. EM showed a great amount of loose lamellae, with less thick sheaths and periodicity close to normal. This myelin contains fewer lipids than normal, sphingolipids and plasmalogens being reduced. Fatty acids from phospholipids are essentially normal, however, enols from plasmalogens are largely reduced. Purified sphingolipids (cerebrosides, sulfatides and sphingomyelin) present a considerable diminution in very long chain fatty acids; the ratio of very long chain fatty acids (over C18) on shorter chains is 1% of the normal value for saturated fatty acids and 2% for the monounsaturated homologues. Protein analysis showed that basic protein and proteolipids were reduced, Wolfgram proteins being relatively increased.