Skip to main content
PMC home page
The American Journal of Pathology logoLink to The American Journal of Pathology
. 1973 Oct;73(1):59–80.

Cultured Skin Fibroblasts in Storage Disorders

An Analysis of Ultrastructural Features

E Kamensky, M Philippart, P Cancilla, S P Frommes
PMCID: PMC1904047  PMID: 4201373

Abstract

Electron microscopic studies were performed on cultured fibroblasts from patients with metachromatic leukodystrophy, Fabry's, Gaucher's, Niemann-Pick's (Type A and C), Sanfilippo's (Type A and B) disease, chondroitin-4-sulfate mucopolysaccharidosis, lipofuscinosis (Spielmeyer-Vogt's disease) and ceroid-lipofuscinosis (Batten's disease with curvilinear bodies). Specific cytoplasmic inclusions with a limiting membrane were identified in Fabry's disease, Niemann-Pick syndrome, chondroitin-4-sulfate mucopolysaccharidosis and Sanfilippo's Type B disease. In Fabry's disease, the lipid inclusions tended to form stacks of parallel and concentric membranes. In Niemann-Pick syndrome, the lipid inclusions were made of wavy, loosely packed membranes. In chondroitin-4-sulfate mucopolysaccharidosis and Sanfilippo B, the lysosomes were enlarged and contained a reticular matrix with little electron-dense material. No specific ultrastructural changes were observed in Gaucher's, Sanfilippo's (Type A) disease, metachromatic leukodystrophy (sulfatidosis) and Batten's disease.

Full text

PDF
60

Images in this article

79Fig 13
on p.79
79Fig 14
on p.79
75Fig 5
on p.75
75Fig 6
on p.75
80Fig 15
on p.80
80Fig 16
on p.80
76Fig 7
on p.76
76Fig 8
on p.76
73Fig 1
on p.73
73Fig 2
on p.73
77Fig 9
on p.77
77Fig 10
on p.77
78Fig 11
on p.78
78Fig 12
on p.78
74Fig 3
on p.74
74Fig 4
on p.74

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Angelini C., Engel A. G., Titus J. L. Adult acid maltase deficiency. Abnormalities in fibroblasts cultured from patients. N Engl J Med. 1972 Nov 9;287(19):948–951. doi: 10.1056/NEJM197211092871902. [DOI] [PubMed] [Google Scholar]
  2. BAUM H., DODGSON K. S., SPENCER B. The assay of arylsulphatases A and B in human urine. Clin Chim Acta. 1959 May;4(3):453–455. doi: 10.1016/0009-8981(59)90119-6. [DOI] [PubMed] [Google Scholar]
  3. Bearn A. G. Cell culture in inherited disease--with some notes on genetic heterogeneity. N Engl J Med. 1972 Apr 6;286(14):764–767. doi: 10.1056/NEJM197204062861409. [DOI] [PubMed] [Google Scholar]
  4. Bowen D. M., Radin N. S. Cerebroside galactosidase: a method for determination and a comparison with other lysosomal enzymes in developing rat brain. J Neurochem. 1969 Apr;16(4):501–511. doi: 10.1111/j.1471-4159.1969.tb06849.x. [DOI] [PubMed] [Google Scholar]
  5. Brightwell R., Tappel A. L. Subcellular distributions and properties of rat liver phosphodiesterases. Arch Biochem Biophys. 1968 Mar 20;124(1):325–332. doi: 10.1016/0003-9861(68)90334-2. [DOI] [PubMed] [Google Scholar]
  6. Brown C. A., Draper P. An electron-microscope study of rat fibroblasts infected with Mycobacterium lepraemurium. J Pathol. 1970 Sep;102(1):21–26. doi: 10.1002/path.1711020105. [DOI] [PubMed] [Google Scholar]
  7. CROCKER A. C. The cerebral defect in Tay-Sachs disease and Niemann-Pick disease. J Neurochem. 1961 Apr;7:69–80. doi: 10.1111/j.1471-4159.1961.tb13499.x. [DOI] [PubMed] [Google Scholar]
  8. Callahan J. W., Lassila E. L., Den Tandt W., Philippart M. Alpha-N-acetylgalactosaminidase: isolation, properties and distribution of the human enzyme. Biochem Med. 1973 Jun;7(3):424–431. doi: 10.1016/0006-2944(73)90063-x. [DOI] [PubMed] [Google Scholar]
  9. DAEMS W. T., van RIJSSEL T. The fine structure of the peribiliary dense bodies in mouse liver tissue. J Ultrastruct Res. 1961 Jun;5:263–290. doi: 10.1016/s0022-5320(61)90020-x. [DOI] [PubMed] [Google Scholar]
  10. Fogelson M. H., Gonatas N. K., Rorke L. B., Spiro A. Oligodendroglial lamellar inclusions. Arch Neurol. 1968 Aug;19(2):150–155. doi: 10.1001/archneur.1968.00480020036003. [DOI] [PubMed] [Google Scholar]
  11. Guilbault G. G., Hieserman J. Fluorometric substrate for sulfatase and lipase. Anal Chem. 1969 Dec;41(14):2006–2009. doi: 10.1021/ac50159a034. [DOI] [PubMed] [Google Scholar]
  12. HASHIMOTO K., GROSS B. G., LEVER W. F. ANGIOKERATOMA CORPORIS DIFFUSUM (FABRY). HISTOCHEMICAL AND ELECTRON MICROSCOPIC STUDIES OF THE SKIN. J Invest Dermatol. 1965 Feb;44:119–128. [PubMed] [Google Scholar]
  13. HERS H. G. INBORN LYSOSOMAL DISEASES. Gastroenterology. 1965 May;48:625–633. [PubMed] [Google Scholar]
  14. Hibbs R. G., Ferrans V. J., Cipriano P. R., Tardiff K. J. A histochemical and electron microscopic study of Gaucher cells. Arch Pathol. 1970 Feb;89(2):137–153. [PubMed] [Google Scholar]
  15. Kamoshita S., Aron A. M., Suzuki K., Suzuki K. Infantile Niemann-Pick disease. A chemical study with isolation and characterization of membranous cytoplasmic bodies and myelin. Am J Dis Child. 1969 Apr;117(4):379–394. [PubMed] [Google Scholar]
  16. Kenyon K. R., Quigley H. A., Hussels I. E., Wyllie R. G., Goldberg M. F. The systemic mucopolysaccharidoses. Ultrastructural and histochemical studies of conjunctiva and skin. Am J Ophthalmol. 1972 Jun;73(6):811–833. [PubMed] [Google Scholar]
  17. Liu H. M. Ultrastructure of central nervous system lesions in metachromatic leukodystrophy with special reference to morphogenesis. J Neuropathol Exp Neurol. 1968 Oct;27(4):624–644. [PubMed] [Google Scholar]
  18. Maciera-Coelho A., Garcia-Giralt E., Adrian M. Changes in lysosomal associated structures in human fibroblasts kept in resting phase. Proc Soc Exp Biol Med. 1971 Nov;138(2):712–718. doi: 10.3181/00379727-138-35974. [DOI] [PubMed] [Google Scholar]
  19. Margolis R. U., Margolis R. K., Santella R., Atherton D. M. The hyaluronidase of brain. J Neurochem. 1972 Oct;19(10):2325–2332. doi: 10.1111/j.1471-4159.1972.tb01286.x. [DOI] [PubMed] [Google Scholar]
  20. Martin J. J., Philippart M., Van Hauwaert J., Callahan J. W., Deberdt R. Niemann-Pick disease (Crocker's group A). Late onset and pigmentary degeneration resembling Hallervorden-Spatz syndrome. Arch Neurol. 1972 Jul;27(1):45–51. doi: 10.1001/archneur.1972.00490130047007. [DOI] [PubMed] [Google Scholar]
  21. Matalon R., Dorfman A. Acid mucopolysaccharides in cultured human fibroblasts. Lancet. 1969 Oct 18;2(7625):838–841. doi: 10.1016/s0140-6736(69)92289-2. [DOI] [PubMed] [Google Scholar]
  22. Napolitano L., Lebaron F., Scaletti J. Preservation of myelin lamellar structure in the absence of lipid. A correlated chemical and morphological study. J Cell Biol. 1967 Sep;34(3):817–826. doi: 10.1083/jcb.34.3.817. [DOI] [PMC free article] [PubMed] [Google Scholar]
  23. Philippart M., Sugarman G. I. Chondroitin-4-sulphate mucopolysaccharidosis--a new variant of Hurler's syndrome. Lancet. 1969 Oct 18;2(7625):854–854. doi: 10.1016/s0140-6736(69)92316-2. [DOI] [PubMed] [Google Scholar]
  24. Robbins E., Levine E. M., Eagle H. Morphologic changes accompanying senescence of cultured human diploid cells. J Exp Med. 1970 Jun 1;131(6):1211–1222. doi: 10.1084/jem.131.6.1211. [DOI] [PMC free article] [PubMed] [Google Scholar]
  25. Résibois A. Electron microscopic studies of metachromatic leucodystrophy. IV. Liver and kidney alterations. Pathol Eur. 1971;6(3):278–298. [PubMed] [Google Scholar]
  26. Résibois A. Electron microscopic study of metachromatic leucodystrophy. 3. Lysosomal nature of the inclusions. Acta Neuropathol. 1969;13(2):149–156. doi: 10.1007/BF00687027. [DOI] [PubMed] [Google Scholar]
  27. Stein O., Stein Y. Electronmicroscopic autoradiography of 3H-glycerol labeled lipid in ethanol induced fatty liver. Exp Cell Res. 1966 Apr;42(1):198–201. doi: 10.1016/0014-4827(66)90334-x. [DOI] [PubMed] [Google Scholar]
  28. Tallman J. F., Jr, Brady R. O., Suzuki K. Enzymic activities associated with membranous cytoplasmic bodies and isolated brain lysosomes. J Neurochem. 1971 Sep;18(9):1775–1777. doi: 10.1111/j.1471-4159.1971.tb03754.x. [DOI] [PubMed] [Google Scholar]
  29. Van Hoof F., Hers H. G. The abnormalities of lysosomal enzymes in mucopolysacc- haridoses. Eur J Biochem. 1968 Dec;7(1):34–44. doi: 10.1111/j.1432-1033.1968.tb19570.x. [DOI] [PubMed] [Google Scholar]
  30. Volk B. W., Wallace B. J. The liver in lipidosis. An electron miscroscopic and histochemical study. Am J Pathol. 1966 Aug;49(2):203–225. [PMC free article] [PubMed] [Google Scholar]
  31. Wallace B. J., Kaplan D., Adachi M., Schneck L., Volk B. W. Mucopolysaccharidosis type 3. Morphologic and biochemical studies of two siblings with Sanfilippo syndrome. Arch Pathol. 1966 Nov;82(5):462–473. [PubMed] [Google Scholar]
  32. van Hoof F., Hers H. G. L'ultrastructure du foie dans certaines thesaurismoses. Rev Int Hepatol. 1967;17(8):815–826. [PubMed] [Google Scholar]
  33. van Mullem P. J., Ruiter M. Fine structure of the skin in angiokeratoma corporis diffusum (Fabry's disease). J Pathol. 1970 Jul;101(3):221–226. doi: 10.1002/path.1711010303. [DOI] [PubMed] [Google Scholar]

Articles from The American Journal of Pathology are provided here courtesy of American Society for Investigative Pathology

RESOURCES