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July 1971, Vol 122, No. 1 >
Article | July 1971

Ultrastructure of Cultured Fibroblasts in I-Cell Disease FREE

Jun Hanai, MD; Jules Leroy, MD, PhD; John S. O'Brien, MD
[+] Author Affiliations

Received for publication Feb 16, 1971; accepted March 16.

Reprint requests to Department of Neurosciences, School of Medicine, University of California, San Diego, La Jolla, Calif. 92037 (Dr. O'Brien).


Am J Dis Child. 1971;122(1):34-38. doi:10.1001/archpedi.1971.02110010070011.
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Cultivated skin fibroblasts from patients with I-cell disease and one patient's parents were investigated by light and electron microscopy. Abundant membrane-bound inclusions, apparently within lysosomes, were found in cultured skin fibroblasts obtained from both patients. Light and electron microscopy demonstrated that the inclusions were PAS positive, oil red O positive, metachromatic, and osmiophilic. The inclusions were comprised of multivesicular and pleomorphic membranes, as well as homogeneous electron dense and electron translucent material. Similar morphological abnormalities were noted occasionally in cells from the patient's father. These morphologic abnormalities, persisting after many cellular generations in vitro, appear to be characteristic features of the I-cell phenotype.

REFERENCES

1 +
Leroy JG, DeMars RI:  Mutant enzymatic and cytological phenotypes in cultured human fibroblasts . Science 157:804-806, 1967;.
2 +
Leroy JG, DeMars RI, Opitz JM:  I-cell disease , in Bergsma D (ed): Birth Defects, Original Article Series . New York, National Foundation, 1970;, vol 5, No. (4) , p 174.
3 +
Leroy JG:  "I-cell" disease: Entity detected in cell culture . Bull Eur Soc Human Genetics 3:40, 1969;.
4 +
DeMars RI, Leroy JG:  The remarkable cells cultured from a human with Hurler's syndrome . In Vitro 2:107, 1967;.
5 +
Danes BS, Bearn AG:  Cystic fibrosis of the pancreas: A study in cell culture . J Exp Med 129:775-795, 1969;.
6 +
Neufeld EF, Fratanton JC:  Inborn errors of mucopolysaccharide metabolism . Science 169:141-146, 1970;.
7 +
Duckett S, Christian JC, Thompson JN, et al:  The ultrastructure of metachromatic bodies in cultured fibroblasts in Hunter's syndrome . Develop Med Child Neurol 11:764-771, 1969;.
8 +
Bartman J, Blanc WA:  Fibroblast cultures in Hurler's and Hunter's syndromes: An ultrastructural study . Arch Path 89:279-286, 1970;.

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References

1 +
Leroy JG, DeMars RI:  Mutant enzymatic and cytological phenotypes in cultured human fibroblasts . Science 157:804-806, 1967;.
2 +
Leroy JG, DeMars RI, Opitz JM:  I-cell disease , in Bergsma D (ed): Birth Defects, Original Article Series . New York, National Foundation, 1970;, vol 5, No. (4) , p 174.
3 +
Leroy JG:  "I-cell" disease: Entity detected in cell culture . Bull Eur Soc Human Genetics 3:40, 1969;.
4 +
DeMars RI, Leroy JG:  The remarkable cells cultured from a human with Hurler's syndrome . In Vitro 2:107, 1967;.
5 +
Danes BS, Bearn AG:  Cystic fibrosis of the pancreas: A study in cell culture . J Exp Med 129:775-795, 1969;.
6 +
Neufeld EF, Fratanton JC:  Inborn errors of mucopolysaccharide metabolism . Science 169:141-146, 1970;.
7 +
Duckett S, Christian JC, Thompson JN, et al:  The ultrastructure of metachromatic bodies in cultured fibroblasts in Hunter's syndrome . Develop Med Child Neurol 11:764-771, 1969;.
8 +
Bartman J, Blanc WA:  Fibroblast cultures in Hurler's and Hunter's syndromes: An ultrastructural study . Arch Path 89:279-286, 1970;.

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