Genetics, Clinical Phenotype, and Molecular Cell Biology of Autosomal Recessive Hypercholesterolemia
ABSTRACT—The recent characterization of a rare genetic defect causing autosomal recessive hypercholesterolemia (ARH) has provided new insights into the underlying mechanism of clathrin-mediated internalization of the LDL receptor. Mutations in ARH on chromosome 1p35-36.1 prevent normal internalizati...
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Published in | Arteriosclerosis, thrombosis, and vascular biology Vol. 23; no. 11; pp. 1963 - 1970 |
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Main Authors | , , |
Format | Journal Article |
Language | English |
Published |
Philadelphia, PA
American Heart Association, Inc
01.11.2003
Hagerstown, MD Lippincott |
Subjects | |
Online Access | Get full text |
ISSN | 1079-5642 1524-4636 1524-4636 |
DOI | 10.1161/01.ATV.0000094410.66558.9A |
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Abstract | ABSTRACT—The recent characterization of a rare genetic defect causing autosomal recessive hypercholesterolemia (ARH) has provided new insights into the underlying mechanism of clathrin-mediated internalization of the LDL receptor. Mutations in ARH on chromosome 1p35-36.1 prevent normal internalization of the LDL receptor by cultured lymphocytes and monocyte-derived macrophages but not by skin fibroblasts. In affected cells, LDL receptor protein accumulates at the cell surface; this also occurs in the livers of recombinant mice lacking ARH, thereby providing an explanation for the failure of clearance of LDL from the plasma in subjects lacking ARH. The ≈50 known affected individuals are mostly of Sardinian or Middle Eastern origin. The clinical phenotype of ARH is similar to that of classic homozygous familial hypercholesterolemia caused by defects in the LDL receptor gene, but it is more variable, generally less severe, and more responsive to lipid-lowering therapy. Structural features of the ARH protein and its capacity to interact simultaneously with the internalization sequence of the LDL receptor, plasma membrane phospholipids, and the clathrin endocytic machinery suggest how ARH can play a pivotal role in gathering the LDL receptor into forming endocytic carrier vesicles. |
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AbstractList | The recent characterization of a rare genetic defect causing autosomal recessive hypercholesterolemia (ARH) has provided new insights into the underlying mechanism of clathrin-mediated internalization of the LDL receptor. Mutations in ARH on chromosome 1p35-36.1 prevent normal internalization of the LDL receptor by cultured lymphocytes and monocyte-derived macrophages but not by skin fibroblasts. In affected cells, LDL receptor protein accumulates at the cell surface; this also occurs in the livers of recombinant mice lacking ARH, thereby providing an explanation for the failure of clearance of LDL from the plasma in subjects lacking ARH. The approximately 50 known affected individuals are mostly of Sardinian or Middle Eastern origin. The clinical phenotype of ARH is similar to that of classic homozygous familial hypercholesterolemia caused by defects in the LDL receptor gene, but it is more variable, generally less severe, and more responsive to lipid-lowering therapy. Structural features of the ARH protein and its capacity to interact simultaneously with the internalization sequence of the LDL receptor, plasma membrane phospholipids, and the clathrin endocytic machinery suggest how ARH can play a pivotal role in gathering the LDL receptor into forming endocytic carrier vesicles. The recent characterization of a rare genetic defect causing autosomal recessive hypercholesterolemia (ARH) has provided new insights into the underlying mechanism of clathrin-mediated internalization of the LDL receptor. Mutations in ARH on chromosome 1p35-36.1 prevent normal internalization of the LDL receptor by cultured lymphocytes and monocyte-derived macrophages but not by skin fibroblasts. In affected cells, LDL receptor protein accumulates at the cell surface; this also occurs in the livers of recombinant mice lacking ARH , thereby providing an explanation for the failure of clearance of LDL from the plasma in subjects lacking ARH. The ≈50 known affected individuals are mostly of Sardinian or Middle Eastern origin. The clinical phenotype of ARH is similar to that of classic homozygous familial hypercholesterolemia caused by defects in the LDL receptor gene, but it is more variable, generally less severe, and more responsive to lipid-lowering therapy. Structural features of the ARH protein and its capacity to interact simultaneously with the internalization sequence of the LDL receptor, plasma membrane phospholipids, and the clathrin endocytic machinery suggest how ARH can play a pivotal role in gathering the LDL receptor into forming endocytic carrier vesicles. The recent characterization of a rare genetic defect causing autosomal recessive hypercholesterolemia (ARH) has provided new insights into the underlying mechanism of clathrin-mediated internalization of the LDL receptor. Mutations in ARH on chromosome 1p35-36.1 prevent normal internalization of the LDL receptor by cultured lymphocytes and monocyte-derived macrophages but not by skin fibroblasts. In affected cells, LDL receptor protein accumulates at the cell surface; this also occurs in the livers of recombinant mice lacking ARH, thereby providing an explanation for the failure of clearance of LDL from the plasma in subjects lacking ARH. The approximately 50 known affected individuals are mostly of Sardinian or Middle Eastern origin. The clinical phenotype of ARH is similar to that of classic homozygous familial hypercholesterolemia caused by defects in the LDL receptor gene, but it is more variable, generally less severe, and more responsive to lipid-lowering therapy. Structural features of the ARH protein and its capacity to interact simultaneously with the internalization sequence of the LDL receptor, plasma membrane phospholipids, and the clathrin endocytic machinery suggest how ARH can play a pivotal role in gathering the LDL receptor into forming endocytic carrier vesicles.The recent characterization of a rare genetic defect causing autosomal recessive hypercholesterolemia (ARH) has provided new insights into the underlying mechanism of clathrin-mediated internalization of the LDL receptor. Mutations in ARH on chromosome 1p35-36.1 prevent normal internalization of the LDL receptor by cultured lymphocytes and monocyte-derived macrophages but not by skin fibroblasts. In affected cells, LDL receptor protein accumulates at the cell surface; this also occurs in the livers of recombinant mice lacking ARH, thereby providing an explanation for the failure of clearance of LDL from the plasma in subjects lacking ARH. The approximately 50 known affected individuals are mostly of Sardinian or Middle Eastern origin. The clinical phenotype of ARH is similar to that of classic homozygous familial hypercholesterolemia caused by defects in the LDL receptor gene, but it is more variable, generally less severe, and more responsive to lipid-lowering therapy. Structural features of the ARH protein and its capacity to interact simultaneously with the internalization sequence of the LDL receptor, plasma membrane phospholipids, and the clathrin endocytic machinery suggest how ARH can play a pivotal role in gathering the LDL receptor into forming endocytic carrier vesicles. ABSTRACT—The recent characterization of a rare genetic defect causing autosomal recessive hypercholesterolemia (ARH) has provided new insights into the underlying mechanism of clathrin-mediated internalization of the LDL receptor. Mutations in ARH on chromosome 1p35-36.1 prevent normal internalization of the LDL receptor by cultured lymphocytes and monocyte-derived macrophages but not by skin fibroblasts. In affected cells, LDL receptor protein accumulates at the cell surface; this also occurs in the livers of recombinant mice lacking ARH, thereby providing an explanation for the failure of clearance of LDL from the plasma in subjects lacking ARH. The ≈50 known affected individuals are mostly of Sardinian or Middle Eastern origin. The clinical phenotype of ARH is similar to that of classic homozygous familial hypercholesterolemia caused by defects in the LDL receptor gene, but it is more variable, generally less severe, and more responsive to lipid-lowering therapy. Structural features of the ARH protein and its capacity to interact simultaneously with the internalization sequence of the LDL receptor, plasma membrane phospholipids, and the clathrin endocytic machinery suggest how ARH can play a pivotal role in gathering the LDL receptor into forming endocytic carrier vesicles. |
Author | Naoumova, Rossitza P. Soutar, Anne K. Traub, Linton M. |
AuthorAffiliation | From the Medical Research Council Clinical Sciences Centre (A.K.S., R.P.N.), Faculty of Medicine, Imperial College, London, UK, and the Department of Cell Biology and Physiology (L.M.T.), University of Pittsburgh School of Medicine, Pittsburgh, Pa |
AuthorAffiliation_xml | – name: From the Medical Research Council Clinical Sciences Centre (A.K.S., R.P.N.), Faculty of Medicine, Imperial College, London, UK, and the Department of Cell Biology and Physiology (L.M.T.), University of Pittsburgh School of Medicine, Pittsburgh, Pa |
Author_xml | – sequence: 1 givenname: Anne surname: Soutar middlename: K. fullname: Soutar, Anne K. organization: From the Medical Research Council Clinical Sciences Centre (A.K.S., R.P.N.), Faculty of Medicine, Imperial College, London, UK, and the Department of Cell Biology and Physiology (L.M.T.), University of Pittsburgh School of Medicine, Pittsburgh, Pa – sequence: 2 givenname: Rossitza surname: Naoumova middlename: P. fullname: Naoumova, Rossitza P. – sequence: 3 givenname: Linton surname: Traub middlename: M. fullname: Traub, Linton M. |
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Cites_doi | 10.1074/jbc.M304133200 10.1073/pnas.252630799 10.1046/j.1365-2796.2003.01139.x 10.1161/atvb.19.3.802 10.1016/S0022-2275(20)37432-0 10.1034/j.1600-0854.2001.020206.x 10.1034/j.1600-0854.2002.30804.x 10.1074/jbc.M204528200 10.1093/emboj/21.7.1555 10.1210/jc.2002-021487 10.1016/S0021-9258(19)39742-X 10.1086/302753 10.1172/JCI6677 10.1073/pnas.97.3.1096 10.1161/atvb.20.4.1089 10.1086/318795 10.1016/S0140-6736(02)07955-2 10.1093/emboj/cdf487 10.1074/jbc.M208539200 10.1172/JCI0216445 10.1242/jcs.115.3.455 10.1083/jcb.151.6.1345 10.1128/MCB.19.7.5179 10.1093/emboj/18.4.871 10.1161/atv91.12.9.1525122 10.1074/jbc.273.27.17056 10.1097/00041433-200304000-00002 10.1016/S0140-6736(81)90183-5 10.1146/annurev.biochem.72.121801.161800 10.1136/hrt.76.1.84 10.1016/S0022-2275(20)41411-7 10.1016/S0021-9150(02)00379-9 10.1074/jbc.M108490200 10.1034/j.1600-0854.2002.30808.x 10.1161/atvb.15.10.1719 10.1002/(SICI)1098-1004(1997)10:2<116::AID-HUMU4>3.0.CO;2-I 10.1038/ng1161 10.1016/S0014-5793(01)03305-1 10.1159/000175431 10.1093/hmg/11.24.3019 10.1016/S0022-2275(20)37137-6 10.1161/01.res.0000018002.43041.08 10.1210/jcem.83.6.4840 10.1074/jbc.M304855200 10.1073/pnas.80.13.4124 10.1086/302370 10.1111/j.1365-2362.1995.tb01709.x 10.1074/jbc.M111587200 10.1136/hrt.80.6.583 10.1126/science.1060458 10.1074/jbc.274.46.33097 10.1016/S1534-5807(02)00215-0 10.1161/atvb.17.11.3092 10.1016/0092-8674(86)90533-7 10.1074/jbc.M000955200 10.1172/JCI0215387 10.1016/S0969-2126(03)00068-6 |
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Keywords | Human Clathrin Pathogenesis Metabolic diseases Genotype Lipids adaptor Hyperlipoproteinemia Autosome Hereditary Genetic determinism LDL receptor clinical phenotype Lipoprotein LDL Phenotype Hypercholesterolemia endocytosis Dyslipemia Molecular biology Recession Biological receptor |
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References | (e_1_3_1_17_2) 1999; 9 e_1_3_1_60_2 (e_1_3_1_57_2) 2002; 115 e_1_3_1_43_2 e_1_3_1_22_2 e_1_3_1_45_2 e_1_3_1_24_2 e_1_3_1_8_2 e_1_3_1_62_2 e_1_3_1_41_2 e_1_3_1_20_2 e_1_3_1_4_2 e_1_3_1_6_2 e_1_3_1_26_2 e_1_3_1_47_2 e_1_3_1_2_2 e_1_3_1_28_2 e_1_3_1_49_2 e_1_3_1_55_2 e_1_3_1_34_2 (e_1_3_1_48_2) 2001; 277 e_1_3_1_51_2 e_1_3_1_11_2 e_1_3_1_30_2 e_1_3_1_53_2 e_1_3_1_15_2 e_1_3_1_59_2 e_1_3_1_19_2 e_1_3_1_38_2 e_1_3_1_21_2 e_1_3_1_44_2 e_1_3_1_23_2 e_1_3_1_46_2 e_1_3_1_7_2 e_1_3_1_40_2 e_1_3_1_61_2 e_1_3_1_9_2 e_1_3_1_42_2 e_1_3_1_29_2 e_1_3_1_3_2 e_1_3_1_5_2 e_1_3_1_25_2 e_1_3_1_27_2 (e_1_3_1_32_2) 1997; 38 e_1_3_1_1_2 (e_1_3_1_35_2) 1997; 38 (e_1_3_1_13_2) 1992; 33 (e_1_3_1_36_2) 1990; 265 e_1_3_1_33_2 e_1_3_1_54_2 e_1_3_1_56_2 e_1_3_1_12_2 e_1_3_1_50_2 e_1_3_1_10_2 e_1_3_1_31_2 e_1_3_1_52_2 e_1_3_1_16_2 e_1_3_1_14_2 e_1_3_1_37_2 e_1_3_1_58_2 e_1_3_1_18_2 e_1_3_1_39_2 |
References_xml | – ident: e_1_3_1_62_2 doi: 10.1074/jbc.M304133200 – ident: e_1_3_1_52_2 doi: 10.1073/pnas.252630799 – ident: e_1_3_1_21_2 doi: 10.1046/j.1365-2796.2003.01139.x – ident: e_1_3_1_1_2 – ident: e_1_3_1_23_2 doi: 10.1161/atvb.19.3.802 – volume: 38 start-page: 1496 year: 1997 ident: e_1_3_1_35_2 publication-title: J Lipid Res doi: 10.1016/S0022-2275(20)37432-0 – ident: e_1_3_1_50_2 doi: 10.1034/j.1600-0854.2001.020206.x – ident: e_1_3_1_59_2 doi: 10.1034/j.1600-0854.2002.30804.x – ident: e_1_3_1_56_2 doi: 10.1074/jbc.M204528200 – volume: 9 start-page: 690 year: 1999 ident: e_1_3_1_17_2 publication-title: Curr Opin Struct Biol – ident: e_1_3_1_29_2 – ident: e_1_3_1_46_2 doi: 10.1093/emboj/21.7.1555 – ident: e_1_3_1_22_2 doi: 10.1210/jc.2002-021487 – volume: 265 start-page: 3116 year: 1990 ident: e_1_3_1_36_2 publication-title: J Biol Chem doi: 10.1016/S0021-9258(19)39742-X – ident: e_1_3_1_24_2 doi: 10.1086/302753 – ident: e_1_3_1_14_2 doi: 10.1172/JCI6677 – ident: e_1_3_1_54_2 doi: 10.1073/pnas.97.3.1096 – ident: e_1_3_1_5_2 doi: 10.1161/atvb.20.4.1089 – ident: e_1_3_1_15_2 doi: 10.1086/318795 – ident: e_1_3_1_25_2 doi: 10.1016/S0140-6736(02)07955-2 – ident: e_1_3_1_47_2 doi: 10.1093/emboj/cdf487 – ident: e_1_3_1_51_2 doi: 10.1074/jbc.M208539200 – ident: e_1_3_1_18_2 doi: 10.1172/JCI0216445 – volume: 277 start-page: 11772 year: 2001 ident: e_1_3_1_48_2 publication-title: J Biol Chem – volume: 115 start-page: 455 year: 2002 ident: e_1_3_1_57_2 publication-title: J Cell Sci doi: 10.1242/jcs.115.3.455 – ident: e_1_3_1_43_2 doi: 10.1083/jcb.151.6.1345 – ident: e_1_3_1_45_2 doi: 10.1128/MCB.19.7.5179 – ident: e_1_3_1_58_2 doi: 10.1093/emboj/18.4.871 – ident: e_1_3_1_10_2 doi: 10.1161/atv91.12.9.1525122 – ident: e_1_3_1_39_2 doi: 10.1074/jbc.273.27.17056 – ident: e_1_3_1_28_2 doi: 10.1097/00041433-200304000-00002 – ident: e_1_3_1_34_2 doi: 10.1016/S0140-6736(81)90183-5 – ident: e_1_3_1_38_2 doi: 10.1146/annurev.biochem.72.121801.161800 – ident: e_1_3_1_31_2 doi: 10.1136/hrt.76.1.84 – volume: 33 start-page: 945 year: 1992 ident: e_1_3_1_13_2 publication-title: J Lipid Res doi: 10.1016/S0022-2275(20)41411-7 – ident: e_1_3_1_26_2 doi: 10.1016/S0021-9150(02)00379-9 – ident: e_1_3_1_55_2 doi: 10.1074/jbc.M108490200 – ident: e_1_3_1_61_2 doi: 10.1034/j.1600-0854.2002.30808.x – ident: e_1_3_1_3_2 doi: 10.1161/atvb.15.10.1719 – ident: e_1_3_1_42_2 – ident: e_1_3_1_4_2 doi: 10.1002/(SICI)1098-1004(1997)10:2<116::AID-HUMU4>3.0.CO;2-I – ident: e_1_3_1_7_2 doi: 10.1038/ng1161 – ident: e_1_3_1_40_2 doi: 10.1016/S0014-5793(01)03305-1 – ident: e_1_3_1_9_2 doi: 10.1159/000175431 – ident: e_1_3_1_20_2 doi: 10.1093/hmg/11.24.3019 – volume: 38 start-page: 2071 year: 1997 ident: e_1_3_1_32_2 publication-title: J Lipid Res doi: 10.1016/S0022-2275(20)37137-6 – ident: e_1_3_1_19_2 doi: 10.1161/01.res.0000018002.43041.08 – ident: e_1_3_1_12_2 doi: 10.1210/jcem.83.6.4840 – ident: e_1_3_1_27_2 doi: 10.1074/jbc.M304855200 – ident: e_1_3_1_33_2 doi: 10.1073/pnas.80.13.4124 – ident: e_1_3_1_6_2 doi: 10.1086/302370 – ident: e_1_3_1_11_2 doi: 10.1111/j.1365-2362.1995.tb01709.x – ident: e_1_3_1_53_2 doi: 10.1074/jbc.M111587200 – ident: e_1_3_1_30_2 doi: 10.1136/hrt.80.6.583 – ident: e_1_3_1_16_2 doi: 10.1126/science.1060458 – ident: e_1_3_1_44_2 doi: 10.1074/jbc.274.46.33097 – ident: e_1_3_1_60_2 doi: 10.1016/S1534-5807(02)00215-0 – ident: e_1_3_1_2_2 doi: 10.1161/atvb.17.11.3092 – ident: e_1_3_1_37_2 doi: 10.1016/0092-8674(86)90533-7 – ident: e_1_3_1_49_2 doi: 10.1074/jbc.M000955200 – ident: e_1_3_1_8_2 doi: 10.1172/JCI0215387 – ident: e_1_3_1_41_2 doi: 10.1016/S0969-2126(03)00068-6 |
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Snippet | ABSTRACT—The recent characterization of a rare genetic defect causing autosomal recessive hypercholesterolemia (ARH) has provided new insights into the... The recent characterization of a rare genetic defect causing autosomal recessive hypercholesterolemia (ARH) has provided new insights into the underlying... |
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SubjectTerms | Biological and medical sciences Cholesterol, LDL - metabolism Clathrin - metabolism Disorders of blood lipids. Hyperlipoproteinemia Endocytosis - physiology Genetic Variation Humans Hyperlipoproteinemia Type II - genetics Hyperlipoproteinemia Type II - metabolism Hyperlipoproteinemia Type II - therapy Hypolipidemic Agents - therapeutic use Medical sciences Metabolic diseases Mutation Phenotype Receptors, LDL - metabolism |
Title | Genetics, Clinical Phenotype, and Molecular Cell Biology of Autosomal Recessive Hypercholesterolemia |
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