scholarly journals Impaired clearance of free cystine from lysosome-enriched granular fractions of I-cell-disease fibroblasts

1986 ◽  
Vol 237 (1) ◽  
pp. 9-15 ◽  
Author(s):  
F Tietze ◽  
L H Rome ◽  
J D Butler ◽  
G S Harper ◽  
W A Gahl
Keyword(s):  
Mutant Cell ◽  
Cell Types ◽  
Nephropathic Cystinosis ◽  
Cell Disease ◽  
Rapid Loss ◽  
Normal Cells ◽  
Cultured Fibroblasts ◽  
Carrier Mechanism ◽  
Mucolipidosis Ii

Cultured fibroblasts from patients with I-cell disease (mucolipidosis II) accumulate excessive amounts of free cystine, similarly to cells from patients with nephropathic cystinosis, a disorder of lysosomal cystine transport. To clarify whether the intralysosomal accumulation of cystine in I-cell-disease fibroblasts was due to a defective disposal mechanism, we measured the rates of clearance of free [35S]cystine from intact normal, cystinotic and I-cell-disease fibroblasts. Loss of radioactivity from the two mutant cell types occurred slowly (t 1/2 = 500 min) compared with the rapid loss from normal cells (t 1/2 = 40 min). Lysosome-rich granular fractions isolated from three different cystine-loaded normal, cystinotic and I-cell-disease fibroblast strains were similarly examined for non-radioactive cystine egress. Normal granular fractions lost cystine rapidly (mean t 1/2 = 43 min), whereas cystinotic granular fractions did not lose any cystine (mean t 1/2 = infinity). I-cell-disease granular fractions displayed prolonged half-times for cystine disposal (mean = 108 min), suggesting that I-cell-disease fibroblasts, like cystinotic cells, possess a defective carrier mechanism for cystine transport.

Neuraminidase in Cultured Fibroblasts and Leucocytes of Homozygotes and Heterozygotes for the Mucolipidosis II Gene (I-Cell Disease)

1979 ◽  
Vol 4 (2) ◽  
pp. 191-200 ◽  
Author(s):  
M. Potier ◽  
S. B. Melancon ◽  
L. Dallaire ◽  
R. Chicoine ◽  
L. Mameli ◽  
...  
Keyword(s):  
Cell Disease ◽  
Cultured Fibroblasts ◽  
Mucolipidosis Ii

scholarly journals Exosome Traceability and Cell Source Dependence on Composition and Cell-Cell Cross Talk

2021 ◽  
Vol 22 (10) ◽  
pp. 5346
Author(s):  
Rabab N. Hamzah ◽  
Karrer M. Alghazali ◽  
Alexandru S. Biris ◽  
Robert J. Griffin
Keyword(s):  
Donor Cell ◽  
Average Diameter ◽  
Cell Types ◽  
Cell Interaction ◽  
Target Cells ◽  
Remote Communication ◽  
Normal Cells ◽  
Growth Environment ◽  
Cell Components ◽  
The Impact

Exosomes are small vesicles with an average diameter of 100 nm that are produced by many, if not all, cell types. Exosome cargo includes lipids, proteins, and nucleic acids arranged specifically in the endosomes of donor cells. Exosomes can transfer the donor cell components to target cells and can affect cell signaling, proliferation, and differentiation. Important new information about exosomes’ remote communication with other cells is rapidly being accumulated. Recent data indicates that the results of this communication depend on the donor cell type and the environment of the host cell. In the field of cancer research, major questions remain, such as whether tumor cell exosomes are equally taken up by cancer cells and normal cells and whether exosomes secreted by normal cells are specifically taken up by other normal cells or also tumor cells. Furthermore, we do not know how exosome uptake is made selective, how we can trace exosome uptake selectivity, or what the most appropriate methods are to study exosome uptake and selectivity. This review will explain the effect of exosome source and the impact of the donor cell growth environment on tumor and normal cell interaction and communication. The review will also summarize the methods that have been used to label and trace exosomes to date.

scholarly journals Loss of thrombospondin transcriptional activity in nickel-transformed cells.

1994 ◽  
Vol 14 (1) ◽  
pp. 851-858 ◽  
Author(s):  
K Salnikow ◽  
S Cosentino ◽  
C Klein ◽  
M Costa
Keyword(s):  
Chinese Hamster ◽  
Restriction Enzymes ◽  
Cell Types ◽  
Suppressor Gene ◽  
Transformed Cells ◽  
Normal Cells ◽  
Nickel Compounds ◽  
Embryo Cells ◽  
Rb Gene

mRNA from normal Chinese hamster embryo (CHE) cells was transcribed to cDNA and subtracted with an excess of mRNA from Chinese hamster embryo cells transformed by nickel compounds. Here we report the recovery of a sequence found to be highly homologous to the mouse thrombospondin 1 gene that was obtained by this subtraction procedure. Since thrombospondin is antiangiogenic, cancer cells expressing high levels of thrombospondin cannot grow in vivo because capillaries will not proliferate to cells secreting thrombospondin. To examine expression of thrombospondin, normal CHE cells were stained with monoclonal antibodies to human thrombospondin. The protein was present abundantly in the cytoplasm of normal cells but at greatly reduced levels in Ni-transformed cells. Analysis of mRNA by Northern (RNA) blot revealed transcripts in normal cells but little thrombospondin mRNA in Ni-transformed cells. Loss of thrombospondin mRNA expression was related to Ni treatment rather than transformation, since Ni-resistant cells also exhibited fewer thrombospondin transcripts than did wild-type cells. Digestion of genomic DNA with various combinations of restriction enzymes revealed thrombospondin gene patterns that were identical in both cell types, suggesting that there were no major deletions or rearrangements of the gene in the nickel-transformed cells. The inactivation of the thrombospondin gene was further investigated by analyzing the promoter activity of this gene linked to a chloramphenicol acetyltransferase (CAT) reporter plasmid that was transfected into normal and Ni-transformed cells. The CAT activity in normal cells was significantly higher than in Ni-transformed cells, suggesting that the promoter region of thrombospondin was less efficiently transcribed in Ni-transformed cells. We studied the consequences of enhanced expression of the retinoblastoma (Rb) gene, a known tumor suppressor gene, on CAT transcription driven by the human thrombospondin promoter. Cotransfection of an expression vector containing the mouse Rb gene greatly enhanced the transcription from the thrombospondin promoter such that the expression was higher in normal cells than in transformed cells.

scholarly journals B-cell-specific accumulation of inclusion bodies loaded with HLA class II molecules in patients with mucolipidosis II (I-cell disease)

2018 ◽  
Vol 86 (1) ◽  
pp. 85-91 ◽  
Author(s):  
Ayano Yokoi ◽  
Yo Niida ◽  
Mondo Kuroda ◽  
Yoko Imi-Hashida ◽  
Tomoko Toma ◽  
...  
Keyword(s):  
B Cell ◽  
Inclusion Bodies ◽  
Class Ii ◽  
Hla Class Ii ◽  
Cell Disease ◽  
Specific Accumulation ◽  
Mucolipidosis Ii ◽  
Hla Class Ii Molecules

Chromatographic components of β-hexosaminidase in I-cell disease (Mucolipidosis II)

1979 ◽  
Vol 47 (3) ◽  
pp. 305-317 ◽  
Author(s):  
A. F. Van Elsen ◽  
J. G. Leroy
Keyword(s):  
Cell Disease ◽  
Mucolipidosis Ii

scholarly journals Immortalization of Different Breast Epithelial Cell Types Results in Distinct Mitochondrial Mutagenesis

2019 ◽  
Vol 20 (11) ◽  
pp. 2813
Author(s):  
Sujin Kwon ◽  
Susan Kim ◽  
Howard Nebeck ◽  
Eun Ahn
Keyword(s):  
Stem Cell ◽  
Epithelial Cell ◽  
Point Mutations ◽  
Cell Types ◽  
Error Rates ◽  
Breast Epithelial Cell ◽  
Trna Genes ◽  
Normal Cells ◽  
Rare Mutations ◽  
Immortalized Cells

Different phenotypes of normal cells might influence genetic profiles, epigenetic profiles, and tumorigenicities of their transformed derivatives. In this study, we investigate whether the whole mitochondrial genome of immortalized cells can be attributed to the different phenotypes (stem vs. non-stem) of their normal epithelial cell originators. To accurately determine mutations, we employed Duplex Sequencing, which exhibits the lowest error rates among currently-available DNA sequencing methods. Our results indicate that the vast majority of the observed mutations of the whole mitochondrial DNA occur at low-frequency (rare mutations). The most prevalent rare mutation types are C→T/G→A and A→G/T→C transitions. Frequencies and spectra of homoplasmic point mutations are virtually identical between stem cell-derived immortalized (SV1) cells and non-stem cell-derived immortalized (SV22) cells, verifying that both cell types were derived from the same woman. However, frequencies of rare point mutations are significantly lower in SV1 cells (5.79 × 10−5) than in SV22 cells (1.16 × 10−4). The significantly lower frequencies of rare mutations are aligned with a finding of longer average distances to adjacent mutations in SV1 cells than in SV22 cells. Additionally, the predicted pathogenicity for rare mutations in the mitochondrial tRNA genes tends to be lower (by 2.5-fold) in SV1 cells than in SV22 cells. While four known/confirmed pathogenic mt-tRNA mutations (m.5650 G>A, m.5521 G>A, m.5690 A>G, m.1630 A>G) were identified in SV22 cells, no such mutations were observed in SV1 cells. Our findings suggest that the immortalization of normal cells with stem cell features leads to decreased mitochondrial mutagenesis, particularly in RNA gene regions. The mutation spectra and mutations specific to stem cell-derived immortalized cells (vs. non-stem cell derived) have implications in characterizing the heterogeneity of tumors and understanding the role of mitochondrial mutations in the immortalization and transformation of human cells.

scholarly journals Erythrocyte and Plasma Lipids in Sickle Cell Anemia

Blood ◽  
1964 ◽  
Vol 23 (2) ◽  
pp. 200-205 ◽  
Author(s):  
MAXWELL P. WESTERMAN ◽  
LAWRENCE E. PIERCE ◽  
WALLACE N. JENSEN
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Total Lipid ◽  
Sickle Cell Anemia ◽  
Plasma Lipids ◽  
Lipid Fraction ◽  
Cell Disease ◽  
Normal Cells ◽  
Plasma Total Lipid ◽  
Lipid Fractions

Abstract Measurement of various lipid moieties of the nonsickled erythrocytes of patients with sickle cell disease demonstrate an increased concentration of all lipid fractions when compared to a normal similarly aged population of erythrocytes. Highly significant increases in sickle disease cells occurred only in the total lipid fraction. The nonsickled erythrocyte of patients with sickle cell disease appears flatter and has a larger surface area than similarly aged normal cells. Significant decreases in plasma total lipid, phospholipid and cholesterol were present.

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