Structure and Function of the Lysosomes of Human Fibroblasts in Culture: Dependence on Medium pH

Lie, Sverre O.; Schofield, Brian; Taylor, Henry; Doty, Stephen B.

doi:10.1203/00006450-197301000-00003

Cited by 40 publications

(18 citation statements)

References 15 publications

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“…During the next few years the cellular morphology and ultrastructure of cultured fibroblasts were reported for Hurler disease [2,5], Hunter disease [2,6], Sanfilippo disease [10], Fabry's disease [21,22], other cases of I cell disease (generally accepted as mucolipidosis type II) [8,19] and also for mucolipidoses types I [20] and III [17].…”

Section: Discussionmentioning

confidence: 99%

Ultrastructure of Cultured Fibroblasts in Mucolipidosis Type IV

Livni¹,

Legum²

1976

Pathobiology

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Five patients have been classified as suffering from mucolipidosis type IV on the basis of the findings in various tissues and in cultured fibroblasts. The light and electron microscopic features of cultured fibroblasts in this disease are described in detail. The differentiation of this condition from other lysosomal storage diseases and other types of mucolipidoses is discussed. The importance of identifying this disease for purposes of intrauterine diagnosis and eventual understanding of the underlying enzyme defect is stressed.

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Section: Discussionmentioning

confidence: 99%

Ultrastructure of Cultured Fibroblasts in Mucolipidosis Type IV

Livni¹,

Legum²

1976

Pathobiology

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“…This may be due to the fact that cytoplasmic anomalies have been reported in normal skin fibroblasts in vitro [21,22]. The anomalies found in cultured normal skin fibroblasts may, however, be due to the variations in culturing and preparative techni ques utilized in different laboratories.…”

Section: Discussionmentioning

confidence: 56%

“…34], and mechanical scraping and trypsinization [23], all can produce the appear ance of cytoplasmic anomalies in cultured cells. A number of other culturing variations have been associated with the appearance of cytoplasmic organelles [21,23], and also the stage of activity of the cell types is known to affect the structure of cells [4,8,10,II. 13,18.…”

Section: Discussionmentioning

confidence: 99%

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Utilization of Electron Microscopy in the Prenatal Diagnosis of Genetic Disease

Wyatt

Cox

1977

Hum Hered

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The use of electron microscopy as a further method of diagnosis of disease in cultured skin fibroblasts and cultured amniotic fluid fibroblasts is presented. It was demonstrated that Tay-Sachs disease, Fabry’s disease, and metachromatic leukodystrophy had distinctive abnormalities in both cultured skin fibroblasts and cultured amniotic fluid fibroblasts. It was shown that control of culturing conditions made it possible to distinguish normal cell lines from certain cell lines carrying known genetic diseases.

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“…Second, indications are that in cultures of high passage number (those a p proaching senescence of the cell line), the cells show large accumulations of unusual cytoplasmic bodies. Third, the ultrastructural appearance of human cultured fibroblasts has been shown to change under different culture conditions (7). This is to be expected as variations are observed in any laboratory test when conditions are altered.…”

Section: Discussionmentioning

confidence: 91%

Tay-Sachs Disease: Ultrastructural Studies on Cultured Fibroblasts

1978

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SummaryThe knowledge that the biochemical lesion associated with Tay-Sachs disease is demonstrable in many tissues, and in particular in cultured fibroblasts, suggested that ultrastructural lesions might also accompany hexosaminidase A deficiency in cultured fibroblasts. Electron microscopic studies on six human skin fibroblast lines and four amniotic fluid fibroblast lines, biochemically confumed to be deficient in hexosaminidase A, showed characteristic cvtoplasmic inclusions not observed in any normal lines studied. u p i o 60 of these abnormal cytoplasm^ inclusions were observed in full cell cross sections in all affected lines examined. SpeculationElectron microscopy of cultured fibroblasts deficient in hexosaminidase A may have value in the understanding of the cellular processes which led to Tay-Sachs disease. Ultrastructural examination may also prove to be of value in the prenatal diagnosis of the disease and possible enzyme replacement therapy Tay-Sachs disease, also termed Gm, gangliosidosis type I, is an autosomal recessive condition which is found predominantly among decendants of Ashkenazie Jews (1 1). The frequency of carriers in these populations is approximately 1 in 30 and the frequency of affected individuals approximately 1 in 4000 live births in this ethnic group (16). Individuals affected with TaySachs disease usually die by 5 years of age.The biochemical abnormality in this disease has been determined to be a marked deficiency in the enzyme hexosaminidase A which, because of the altered metabolic activity, leads to the accumulation of ganglioside Gm, in numerous tissues of the affected individual (13). The accumulation of ganglioside Gm, has also been detected in cultured cells (2). Biochemical assay of the activity of hexosaminidase A has been determined in liver, brain, skin, kidney, leukocytes, serum, cultured fibroblasts, and amniotic fluid cells (6, 13). In addition, electron microscopic examination of neuronal cells from children affected with Tay-Sachs disease has shown the presence of numerous membraneous cytoplasmic bodies which are composed of concentrically arranged membranes, closely packed together (16). Some investigators consider these inclusions to be characteristic for the disease (12). The bodies measure between 0.5 and 2.0 p m in diameter and have been demonstrated to be the site of acid phosphatase activity, indicating their probable lysosomal origin (17). Chemical analysis demonstrates that they contain large quantities of ganglioside Gm, (15).The knowledge that the biochemical lesion associated with Tay-Sachs disease is demonstrable in many tissues and, in particular, in cultured fibroblasts, suggested that ultrastructural lesions might also accompany hexosaminidase A deficiency in cultured fibroblasts. To investigate this possibility, an electron microscopic examination was made of cultured cells known to be deficient in hexosaminidase A .We have demonstrated that cultured fibroblasts derived from individuals affected with Tay-Sachs disease have distinct morphologic ...

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Structure and Function of the Lysosomes of Human Fibroblasts in Culture: Dependence on Medium pH

Cited by 40 publications

References 15 publications

Ultrastructure of Cultured Fibroblasts in Mucolipidosis Type IV

Ultrastructure of Cultured Fibroblasts in Mucolipidosis Type IV

Utilization of Electron Microscopy in the Prenatal Diagnosis of Genetic Disease

Tay-Sachs Disease: Ultrastructural Studies on Cultured Fibroblasts

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