Altered metabolism of low-density lipoprotein and very-low-density lipoprotein remnant in autosomal recessive hypercholesterolemia results from stable isotope kinetic study in vivo

Circulation: Cardiovascular Genetics

Volumn 5, Issue 1, 2012, Pages 35-41

  Tada, Hayato ^a   Kawashiri, Masa Aki ^a   Ikewaki, Katsunori ^b   Terao, Yoshio ^c   Noguchi, Tohru ^a   Nakanishi, Chiaki ^a   Tsuchida, Masayuki ^a   Takata, Mutsuko ^a   Miwa, Kenji ^d   Konno, Tetsuo ^a   Hayashi, Kenshi ^a   Nohara, Atsushi ^a   Inazu, Akihiro ^a   Kobayashi, Junji ^a   Mabuchi, Hiroshi ^a   Yamagishi, Masakazu ^a  

^a KANAZAWA UNIVERSITY   (Japan)

^b NATIONAL DEFENSE MEDICAL COLLEGE   (Japan)

^c JIKEI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^d ISHIKAWA PREFECTURAL CENTRAL HOSPITAL   (Japan)

Author keywords

ARH; Genetics; LDLRAP1; Lipoproteins; Metabolism

Indexed keywords

APOLIPOPROTEIN B; ATORVASTATIN; CHOLESTEROL; LATHOSTEROL; LOW DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN RECEPTOR; TRIACYLGLYCEROL; VERY LOW DENSITY LIPOPROTEIN CHOLESTEROL;

ACHILLES TENDON; AGED; ANGIOGRAPHY; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CATABOLISM; CHOLESTEROL BLOOD LEVEL; CLEARANCE; COMPARTMENT MODEL; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; CORONARY ARTERY OBSTRUCTION; GAS CHROMATOGRAPHY; GENE MUTATION; HOMOZYGOSITY; HUMAN; HYPERCHOLESTEROLEMIA; ILIAC ARTERY OBSTRUCTION; LEFT ANTERIOR DESCENDING CORONARY ARTERY; LIPOPROTEIN METABOLISM; MALE; MASS SPECTROMETRY; PRIORITY JOURNAL; TREATMENT DURATION; TRIACYLGLYCEROL BLOOD LEVEL; XANTHOMA;

ADULT; AGED; ANTICHOLESTEREMIC AGENTS; APOLIPOPROTEINS B; GAS CHROMATOGRAPHY-MASS SPECTROMETRY; HEPTANOIC ACIDS; HUMANS; HYPERCHOLESTEROLEMIA; ISOTOPE LABELING; KINETICS; LIPOPROTEINS, LDL; LIPOPROTEINS, VLDL; MALE; MIDDLE AGED; PEDIGREE; PYRROLES;

EID: 84860851277     PISSN: 1942325X     EISSN: 19423268     Source Type: Journal    
DOI: 10.1161/CIRCGENETICS.111.960948     Document Type: Article

References (27)

1. Goldstein JL, Hobbs HH, Brown MS. Familial hypercholesterolemia. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. 8th edition. Vol 2. New York: McGraw-Hill; 2001:2863-2913.
2. Soutar AK, Naoumova RP, Mechanisms of disease: Genetic causes of familial hypercholesterolemia. Nat Clin Pract Cardiovasc Med. 2007;4: 214-225. (Pubitemid 46502094)
3. Harada-Shiba M, Tajima S, Yokoyama S, Miyake Y, Kojima S, Tsushima M, Kawakami M, Yamamoto A. Siblings with normal LDL receptor activity and severe hypercholesterolemia. Arterioscler Thromb. 1992;12: 1071-1078.
4. Garcia CK, Wilund K, Arca M, Zuliani G, Fellin R, Maioli M, Calandra S, Bertolini S, Cossu F, Grishin N, Barnes R, Cohen JC, Hobbs HH. Calandra S, Bertolini S, Cossu F, Grishin N, Barnes R, Cohen JC, Hobbs HH. Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein. Science. 2001;292:1394-1398. (Pubitemid 32476229)
5. Pisciotta L, Oliva CP, Pes GM, Scala DL, Bellocchio A, Fresa R, Cantafora A, Arca M, Calandra S, Bertolini S. Autosomal recessive hypercholesterolemia (ARH) and homozygous familial hypercholesterolemia (FH): A phenotypic comparison. Atherosclerosis. 2006;188: 398-405. (Pubitemid 44301145)
6. Soutar AK, Naoumova RP. Autosomal recessive hypercholesterolemia. Semin Vasc Med. 2004;4:241-248. (Pubitemid 40094488)
7. He G, Gupta S, Michaely P, Hobbs HH, Cohen JC. ARH is a modular adaptor protein that interacts with the LDL receptor, clathrin and AP-2., J Biol Chem.,2002;277:44044-44049. (Pubitemid 36157831)
8. Arca M, Zuliani G, Wilund K, Campagna F, Fellin R, Bertolini S, Calandra S, Ricci G, Glorioso N, Maioli M, Pintus P, Carru C, Cossu F, Cohen J, Hobbs HH. Autosomal recessive hypercholesterolaemia in Sardinia, Italy, and mutations in ARH: A clinical and molecular genetic analysis. Lancet. 2002;359:841-847. (Pubitemid 34233756)
9. Jones C, Garuti R, Michaely P, Li WP, Maeda N, Cohen JC, Herz J, Hobbs HH. Disruption of LDL but not VLDL clearance in autosomal recessive hypercholesterolemia. J Clin Invest. 2007;117:165-174. (Pubitemid 46048463)
10. Barbagallo CM, Emmanuele G, Cefalù AB, Fiore B, Noto D, Mazzarino MC, Pace A, Brogna A, Rizzo M, Corsini A, Notarbartolo A, Travali S, Averna MR. Autosomal recessive hypercholesterolemia in a Sicilian kindred harboring the 432insA mutation of the ARH gene. Atherosclerosis. 2003; 166:395-400. (Pubitemid 36074975)
11. Noguchi T, Katsuda S, Kawashiri MA, Tada H, Nohara A, Inazu A, Yamagishi M, Kobayashi J, Mabuchi H. The E32K variant of PCSK9 exacerbates the phenotype of familial hypercholesterolemia by increasing PCSK9 function and concentration in the circulation. Atherosclerosis. 2010;210:166-172.
12. Kobayashi J, Hashimoto H, Fukamachi I, Tashiro J, Shirai K, Saito Y, Yoshida S. Lipoprotein lipase mass and activity in severe hypertriglyceridemia. Clin Chim Acta. 1993;216:113-123. (Pubitemid 23233114)
13. Tada H, Kawashiri MA, Noguchi T, Mori M, Tsuchida M, Takata M, Nohara A, Inazu A, Kobayashi J, Yachie A, Mabuchi H, Yamagishi M. A novel method for determining functional LDL receptor activity in familial hypercholesterolemia: Application of the CD3/CD28 assay in lymphocytes. Clin Chim Acta. 2009;400:42-47.
14. Ikewaki K, Rader DJ, Sakamoto T, Nishiwaki M, Wakimoto N, Schaefer JR, Ishikawa T, Fairwell T, Zech LA, Nakamura H, Nagano M, Brewer HB, Jr. Delayed Catabolism of high density lipoprotein apolipoproteins A-I and A-Il in human cholesteryl ester transfer protein deficiency. J Clin Invest. 1993;92:1650-1658. (Pubitemid 23304526)
15. Ikewaki K, Zech LA, Brewer HB Jr, Rader DJ. ApoA-II kinetics in humans using endogenous labeling with stable isotopes: Slower turnover of apoA-II compared with the exogenous radiotracer method. J Lipid Res. 1996;37:399-407.
16. Barrett PH, Bell BM, Cobelli C, Golde H, Schumitzky A, Vicini P, Foster DM. SAAM II: Simulation, analysis, and modeling software for tracer and pharmacokinetic studies. Metabolisms. 1998;47:484-492. (Pubitemid 28180958)
17. Millar JS, Maugeais C, Ikewaki K, Kolansky DM, Barrett PH, Budreck EC, Boston RC, Tada N, Mochizuki S, Defesche JC, Wilson JM, Rader DJ. Complete deficiency of the low-density lipoprotein receptor is associated with increased apolipoprotein B-100 production. Arterioscler Thromb Vasc Biol. 2005;25:560-565. (Pubitemid 40315678)
18. Usui S, Hara Y, Hosaki S, Okazaki M. A new on-line dual enzymatic method for simultaneous quantification of cholesterol and triglycerides in lipoproteins by HPLC. J Lipid Res. 2002;43:805-814. (Pubitemid 34477908)
19. Harada-Shiba M, Takagi A, Miyamoto Y, Tsushima M, Ikeda Y, Yokoyama S, Yamamoto A. Clinical features and genetic analysis of autosomal recessive hypercholesterolemia. J Clin Endocrinol Metab. 2003;88:2541-2547. (Pubitemid 36724420)
20. Uauy R, Vega GL, Grundy SM, Bilheimer DM. Lovastatin therapy in receptor-negative homozygous familial hypercholesterolemia: Lack of effect on low-density lipoprotein concentrations or turnover. J Pediatr. 1998;113:387-392.
21. Mahley RW. Apolipoprotein E: Cholesterol transport protein with expanding role in cell biology. Science. 1988;240:622-630.
22. James RW, Martin B, Pometta D, Fruchart JC, Duriez P, Puchois P, Farriaux JP, Tacquet A, Demant T, Clegg RJ, et al. Apolipoprotein B metabolism in homozygous familial hypercholesterolemia. J Lipid Res. 1989;30:159-169. (Pubitemid 19067221)
23. Michaely P, Zhao Z, Li WP, Garuti R, Huang LJ, Hobbs HH, Cohen JC. Identification of a VLDL-induced, FDNPVY independent internalization mechanism for the LDLR. EMBO J. 2007;26:3273-3282. (Pubitemid 47123534)
24. Altenburg M, Arbones-Mainar J, Johnson L, Wilder J, Maeda N. Human LDL receptor enhances sequestration of ApoE4 and VLDL remnants on the surface of hepatocytes but not their internalization in mice. Arterioscler Thromb Vasc Biol. 2008;28:1104-1110.
25. Mahley RW, Huang Y. Atherogenic remnant lipoproteins: Role for proteoglycans in trapping, transferring, and internalizing. J Clin Invest. 2007;117:94-98. (Pubitemid 46048456)
26. Endo K, Miyashita Y, Saiki A, Oyama T, Koide N, Ozaki H, Otsuka M, Ito Y, Shirai K. Atorvastatin and pravastatin elevated pre-heparin lipoprotein lipase mass of type 2 diabetes with hypercholesterolemia. J Atheroscler Thromb. 2004;11:341-347.
27. Schneider JG, von Eynatten M, Parhofer KG, Volkmer JE, Schiekofer S, Hamann A, Nawroth PP, Dugi KA. Atorvastatin improves diabetic dyslipidemia and increases lipoprotein lipase activity in vivo. Atherosclerosis. 2004;175:325-333.