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Characterization of a novel cellular defect in patients with phenotypic homozygous familial hypercholesterolemia
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Immortalized lymphocytes, but not fibroblasts, from ARH-deficient subjects fail to internalize LDL.
“Immortalized lymphocytes, but not fibroblasts, from ARH-deficient subjects fail to internalize LDL.”
From The Modular Adaptor Protein ARH Is Required for Low Density Lipoprotein (LDL) Binding and Internalization but Not for LDL Receptor Clustering in Coated Pits (2004) · cites this paper as [16]
The Analysis of LDL receptor function reports that the patients’ cultured lymphoblasts bound LDL but failed to internalize LDL receptors and degrade LDL. The Discussion says the authors had not identified the defective gene and did not know whether the lymphoblast defect occurred in other tissues. The paper therefore does not establish ARH deficiency or the claimed contrast with fibroblasts. (LLM, conf=0.88)
Experimental — accuracy not yet measured125I-LDL binding is only 2-fold higher in ARH-/- cells than in normal cells.
“By contrast 125 I-LDL binding was only 2-fold higher in ARH Ϫ/Ϫ cells than in the normal cells (Fig. 5B) in agreement with prior estimates of the relative LDL binding capacity of ARH Ϫ/Ϫ lymphocytes (16,17,29).”
From The Modular Adaptor Protein ARH Is Required for Low Density Lipoprotein (LDL) Binding and Internalization but Not for LDL Receptor Clustering in Coated Pits (2004) · cites this paper as [16]
In “Analysis of LDL receptor function” (page not available), the paper reports that the patients’ lymphoblasts bound at least as much LDL as normal cells. It does not give a twofold estimate: it says measurements with ¹²⁵I-labeled lipoproteins were unreliable and instead measured binding with fluorescently labeled LDL. (LLM, conf=0.88)
Experimental — accuracy not yet measuredThe degradation of 125I-LDL is severely compromised in ARH-/- lymphocytes despite an increased amount of LDL binding to the surfaces of these cells.
“The degradation of 125 I-LDL is severely compromised in ARH Ϫ/Ϫ lymphocytes despite an increased amount of LDL binding to the surfaces of these cells (16,17).”
From The Modular Adaptor Protein ARH Is Required for Low Density Lipoprotein (LDL) Binding and Internalization but Not for LDL Receptor Clustering in Coated Pits (2004) · cites this paper as [16]
The Analysis of LDL receptor function reports that neither index patient’s lymphoblasts could degrade ¹²⁵I-LDL, while both bound at least as much LDL as control cells. It does not establish increased binding relative to controls, and the Discussion says the responsible gene had not yet been identified, so the paper does not establish that these cells were ARH−/−. (LLM, conf=0.86)
Experimental — accuracy not yet measuredARH is essential for normal LDLR endocytosis in transformed lymphocytes, but not in fibroblasts.
“Previous studies have demonstrated that ARH is essential for normal LDLR endocytosis in transformed lymphocytes, but not in fibroblasts (6, 7).”
From The Modular Adaptor Protein Autosomal Recessive Hypercholesterolemia (ARH) Promotes Low Density Lipoprotein Receptor Clustering into Clathrin-coated Pits (2005) · cites this paper as [6]
The Analysis of LDL receptor function reports that EBV-transformed lymphoblasts from two patients could not internalize LDL receptors. But the Discussion says the responsible gene had not yet been identified and explicitly leaves open whether the defect occurs in other tissues. The paper therefore does not establish that ARH is essential for endocytosis or that fibroblasts do not require it; no page numbers are available in our copy. (LLM, conf=0.88)
Experimental — accuracy not yet measuredAutosomal recessive hypercholesterolemia is caused by defective internalization of LDL receptors in the liver.
“a disorder caused by defective internalization of low density lipoprotein receptors (LDLR) in the liver.”
From ARH Is a Modular Adaptor Protein That Interacts with the LDL Receptor, Clathrin, and AP-2 (2002) · cites this paper as [5]
The Discussion describes two patients whose disorder appears to be inherited as an autosomal recessive trait, and the Analysis of LDL receptor function reports that their receptors bind LDL but are not internalized. The experiments used cultured patient cells, not liver cells, so the paper does not establish the claim’s liver-specific mechanism. (LLM, conf=0.87)
Experimental — accuracy not yet measured
In immortalized lymphoblasts from ARH patients, LDL degradation is decreased by approximately 75% compared with normal individuals despite increased cell surface binding of LDL.
“Immortalized lymphoblasts from ARH patients have more LDLRs on the plasma membrane; however, despite increased cell surface binding of LDL, LDL degradation is decreased by ∼75% compared with lymphoblasts from normal individuals (5”
From ARH Is a Modular Adaptor Protein That Interacts with the LDL Receptor, Clathrin, and AP-2 (2002) · cites this paper as [5]
The Analysis of LDL receptor function (page unavailable) reports that the patients’ lymphoblasts had LDL receptors on the cell surface, bound at least as much LDL as normal cells, and were unable to degrade labeled LDL. It does not report an approximately 75% decrease or establish that LDL binding was increased rather than equal. (LLM, conf=0.88)
Experimental — accuracy not yet measuredARH is required for efficient endocytosis of LDLR in circulating lymphocytes and monocyte-derived macrophages from ARH patients.
“The results of these studies clearly suggested that ARH is required for the efficient endocytosis of LDLR in these cells.”
From Adaptor Protein ARH Is Recruited to the Plasma Membrane by Low Density Lipoprotein (LDL) Binding and Modulates Endocytosis of the LDL/LDL Receptor Complex in Hepatocytes (2005) · cites this paper as [25]
The Analysis of LDL receptor function section reports that cells from two patients could bind LDL but could not internalize LDL receptors, supporting the endocytosis defect. The study used cultured lymphoblasts, not circulating lymphocytes or monocyte-derived macrophages, and our copy does not identify ARH as the required factor. No page number is provided in the indexed passages. (LLM, conf=0.88)
Experimental — accuracy not yet measuredImmortalized lymphoblasts from ARH patients have more LDLRs on the plasma membrane.
“Immortalized lymphoblasts from ARH patients have more LDLRs on the plasma membrane; however, despite increased cell surface binding of LDL, LDL degradation is decreased by ∼75% compared with lymphoblasts from normal individuals (5”
From ARH Is a Modular Adaptor Protein That Interacts with the LDL Receptor, Clathrin, and AP-2 (2002) · cites this paper as [5]
LDL degradation is markedly reduced in transformed lymphocytes from ARH patients.
“Recently, LDL degradation was shown to be markedly reduced in transformed lymphocytes from ARH patients (5”
From ARH Is a Modular Adaptor Protein That Interacts with the LDL Receptor, Clathrin, and AP-2 (2002) · cites this paper as [5]
In ARH-/- lymphocytes, the increase in cell surface LDLRs observed in this study (~15-20-fold) is substantially higher than the relative increase in LDL binding (2-fold) observed previously.
“The relative increase in the number of cell surface LDLRs in ARH Ϫ/Ϫ lymphocytes observed in this study (ϳ15-20-fold) is substantially higher than the relative increase in LDL binding (2-fold) observed previously (16,17,29).”
From The Modular Adaptor Protein ARH Is Required for Low Density Lipoprotein (LDL) Binding and Internalization but Not for LDL Receptor Clustering in Coated Pits (2004) · cites this paper as [16]
The Analysis of LDL receptor function reports that the patients’ cells bound at least as much LDL as control cells, but gives no twofold increase. Searches for “twofold increase” and “2-fold LDL binding” found no passage in our copy establishing the numerical comparison attributed to this paper. (LLM, conf=0.72)
Experimental — accuracy not yet measuredLDLR function is significantly impaired in immortalized lymphocytes from ARH patients.
“In contrast to fibroblasts, LDLR function is significantly impaired in immortalized lymphocytes from ARH patients (16,17).”
From The Modular Adaptor Protein ARH Is Required for Low Density Lipoprotein (LDL) Binding and Internalization but Not for LDL Receptor Clustering in Coated Pits (2004) · cites this paper as [16]
LDLR endocytosis is not impaired in ARH-deficient fibroblasts.
“LDLR endocytosis is not impaired in ARH-deficient fibroblasts (6 -8)”
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Citations
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ARH Is a Modular Adaptor Protein That Interacts with the LDL Receptor, Clathrin, and AP-2
He, G., Gupta, S., Yi, M., Michaely, P., Hobbs, H. H., & Cohen, J. C. (2002) · Journal of Biological Chemistry · doi:10.1074/jbc.m208539200 · Cited by 232
The adaptor protein Dab2 sorts LDL receptors into coated pits independently of AP-2 and ARH
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Sirinian, M. I., Belleudi, F., Campagna, F., Ceridono, M., Garofalo, T., Quagliarini, F., Verna, R., Calandra, S., Bertolini, S., Sorice, M., et al. (2005) · Journal of Biological Chemistry · doi:10.1074/jbc.m504343200 · Cited by 42
Eden, E. R., Sun, X.-M., Patel, D. D., & Soutar, A. K. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm232 · Cited by 27
Self-citation
Metadata
- Authors
- Norman, D., Sun, X.-M., Bourbon, M., Knight, B. L., Naoumova, R. P., & Soutar, A. K.
- Venue
- Journal of Clinical Investigation
- Published
- 1999-09-01
- Volume
- 104
- Issue
- 5
- Pages
- 619-628
- ISSN
- 0021-9738
- Cited by
- 69
- References
- 0
- Language
- en
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