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Molecular mechanisms of autosomal recessive hypercholesterolemia
Abstract
Mutations in the phosphotyrosine-binding domain protein ARH cause autosomal recessive hypercholesterolemia (ARH), an inherited form of hypercholesterolemia due to a tissue-specific defect in the removal of low density lipoproteins (LDL) from the circulation. LDL uptake by the LDL receptor (LDLR) is markedly reduced in the liver but is normal or only moderately impaired in cultured fibroblasts of ARH patients. To define the molecular mechanism underlying ARH we examined ARH mRNA and protein in fibroblasts and lymphocytes from six probands with different ARH mutations. None of the probands had detectable full-length ARH protein in fibroblasts or lymphoblasts. Five probands were homozygous for mutations that introduced premature termination codons. No relationship was apparent between the site of the mutation in ARH and the amount of mRNA. The only mutation identified in the remaining proband was a SINE VNTR Alu (SVA) retroposon insertion in intron 1, which was associated with no detectable ARH mRNA. (125)I-LDL degradation was normal in ARH fibroblasts, as previously reported. In contrast, LDLR function was markedly reduced in ARH lymphoblasts, despite a 2-fold increase in LDL cell surface binding in these cells. These data indicate that all ARH mutations characterized to date preclude the synthesis of full-length ARH and that ARH is required for normal LDLR function in lymphocytes and hepatocytes, but not in fibroblasts. Residual LDLR function in cells that do not require ARH m…
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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 [17]
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 [17]
125I-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 [17]
ARH is required for normal uptake and degradation of LDL in human lymphocytes and in mouse liver.
“We have shown previously that ARH is required for normal uptake and degradation of LDL in human lymphocytes and in mouse liver (17,28), but the specific role of ARH in LDLRmediated endocytosis has not been defined.”
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 [17]
LDLR 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 [17]
The 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 [17]
LDLR endocytosis is not impaired in ARH-deficient fibroblasts.
“LDLR endocytosis is not impaired in ARH-deficient fibroblasts (6 -8)”
ARH 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).”
ARH 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.”
Citations
Cites
A Receptor-Mediated Pathway for Cholesterol Homeostasis
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Experiences with the Homozygous Cases of Familial Hypercholesterolemia
Khachadurian, A. K., & Uthman, S. M. (1973) · Annals of Nutrition and Metabolism · doi:10.1159/000175431 · Cited by 185
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The adaptor protein Dab2 sorts LDL receptors into coated pits independently of AP-2 and ARH
Maurer, M. E., & Cooper, J. A. (2006) · Journal of Cell Science · doi:10.1242/jcs.03217 · Cited by 195
Garuti, R., Jones, C., Li, W.-P., Michaely, P., Herz, J., Gerard, R. D., Cohen, J. C., & Hobbs, H. H. (2005) · Journal of Biological Chemistry · doi:10.1074/jbc.m509394200 · Cited by 91
Sorrentino, V., Nelson, J. K., Maspero, E., Marques, A. R. A., Scheer, L., Polo, S., & Zelcer, N. (2013) · Journal of Lipid Research · doi:10.1194/jlr.m037713 · Cited by 68
Michaely, P., Li, W.-P., Anderson, R. G. W., Cohen, J. C., & Hobbs, H. H. (2004) · Journal of Biological Chemistry · doi:10.1074/jbc.m405242200 · Cited by 66
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
Metadata
- Authors
- Wilund, K. R.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2002-11-15
- Volume
- 11
- Issue
- 24
- Pages
- 3019-3030
- ISSN
- 1460-2083
- Cited by
- 113
- References
- 2
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