Glycolipid storage material in Fabry's disease: a study by electron microscopy, freeze-fracture, and digital image analysis

Journal of Structural Biology
M SimonB Bültmann

Abstract

The glycolipid storage material in Fabry's disease was studied by electron microscopy of thin-sectioned (TS) and freeze-fractured (FF) specimens. In the kidney all deposits were found to be located in lysosomes, arranged as lamellar stacks. Deposits in the heart consisted of intracytoplasmic concentric whirls or folded lamellar structures. High resolution TS micrographs disclosed various defects in the lamellar structure. For stabilization, such defects require additional amphiphilic, surface-active molecules. These molecules could interact with other cellular constituents. The lamellar periodicity of the deposits in FF specimens was determined by reconstruction of the three-dimensional fracture face by digital image analysis. Homogeneous multilamellar deposits exhibited a periodicity of 14-15 nm, contrasting with the conventional estimates of 4-5 nm on TS micrographs. This difference is explained by better preservation of the physiologic hydrated state in FF specimens, with 1 vol of lipids binding 2 vol of water. Inhomogeneous structures with an even higher state of hydration included water lenses between the sheets. The strong hydration obviously contributes to the enlargement of the intracellular glycolipid deposits.

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Citations

Jul 2, 2016·Therapeutic Advances in Gastroenterology·Claire Zar-KesslerBraden Kuo
Dec 21, 2007·Lab on a Chip·Thomas M Keenan, Albert Folch
Feb 23, 2018·Drug Metabolism and Disposition : the Biological Fate of Chemicals·Jennifer RyanKenneth W Dunn
Apr 4, 2021·International Journal of Environmental Research and Public Health·Fabio CaputoGiorgio Zoli

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