A novel type of familial hypercholesterolemia: Double heterozygous mutations in LDL receptor and LDL receptor adaptor protein 1 gene

Atherosclerosis

Volumn 219, Issue 2, 2011, Pages 663-666

  Tada, Hayato ^a   Kawashiri, Masa aki ^a   Ohtani, Rumiko ^b   Noguchi, Tohru ^b   Nakanishi, Chiaki ^a   Konno, Tetsuo ^a   Hayashi, Kenshi ^a   Nohara, Atsushi ^b   Inazu, Akihiro ^b   Kobayashi, Junji ^b   Mabuchi, Hiroshi ^b   Yamagishi, Masakazu ^a  

^a KANAZAWA UNIVERSITY GRADUATE SCHOOL OF MEDICAL SCIENCE   (Japan)

^b KANAZAWA UNIVERSITY   (Japan)

Author keywords

Autosomal recessive hypercholesterolemia; Familial hypercholesterolemia; Low density lipoprotein receptor adopter protein 1; PCSK9

Indexed keywords

ADAPTOR PROTEIN; ATORVASTATIN; CHOLESTEROL ESTER TRANSFER PROTEIN; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; KEXIN; LDL RECEPTOR ADAPTOR PROTEIN 1; LOW DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN RECEPTOR; PRAVASTATIN; PROPROTEIN CONVERTASE SUBTILISIN KEXIN TYPE 9; SERINE PROTEINASE; UNCLASSIFIED DRUG;

ACHILLES TENDON; ADULT; AGED; AORTA VALVE DISEASE; ARTICLE; ATHEROSCLEROSIS; CARDIOVASCULAR DISEASE; CHOLESTEROL BLOOD LEVEL; CORONARY ARTERY DISEASE; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; GENE IDENTIFICATION; GENE MUTATION; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; PRIORITY JOURNAL; RELATIVE; XANTHOMA;

ACHILLES TENDON; ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADULT; AGED; BIOLOGICAL MARKERS; CARDIOVASCULAR DISEASES; CHOLESTEROL ESTER TRANSFER PROTEINS; CHOLESTEROL, LDL; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; JAPAN; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PHENOTYPE; PROPROTEIN CONVERTASES; RECEPTORS, LDL; SERINE ENDOPEPTIDASES; SEVERITY OF ILLNESS INDEX; XANTHOMATOSIS;

EID: 82955195618     PISSN: 00219150     EISSN: 18791484     Source Type: Journal    
DOI: 10.1016/j.atherosclerosis.2011.08.004     Document Type: Article

References (15)

1. Goldstein J.L., Hobbs H.H., Brown M.S. Familial hypercholesterolemia. The metabolic and molecular bases of inherited disease 2001, 8the ed., vol. 2:2863-2913. McGraw-Hill, New York.
2. Soutar A.K., Naoumova R.P. Mechanisms of disease: genetic causes of familial hypercholesterolemia. Nat Clin Pract Cardiovasc Med 2007, 4:214-225.
3. Noguchi T., Katsuda S., Kawashiri M.A., et al. 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.
4. Harada-Shiba M., Tajima S., Yokoyama S., et al. Siblings with normal LDL receptor activity and severe hypercholesterolemia. Arterioscler Thromb 1992, 12:1071-1078.
5. Garcia C.K., Wilund K., Arca M., et al. Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein. Science 2001, 292:1394-1398.
6. Pisciotta L., Oliva C.P., Pes G.M., et al. Autosomal recessive hypercholesterolemia (ARH) and homozygous familial hypercholesterolemia (FH): a phenotypic comparison. Atherosclerosis 2006, 188:398-405.
7. Harada K., Miyamoto Y., Morisaki H., et al. A novel Thr56Met mutation of the autosomal recessive hypercholesterolemia gene associated with hypercholesterolemia. J Atheroscler Thromb 2010, 17:131-140.
8. Daskalopoulou S.S. When statin therapy stops: implications for the patient. Curr Opin Cardiol 2009, 24:454-460.
9. McGowan M.P. There is no evidence for an increase in acute coronary syndromes after short-term abrupt discontinuation of statins in stable cardiac patients. Circulation 2004, 110:2333-2335. Treating to New Target (TNT) Study Group.
10. Kiyohara T., Kiriyama R., Zamma S., et al. Enzyme immunoassay for cholesteryl ester transfer protein in human serum. Clin Chim Acta 1998, 271:109-118.
11. Barbagallo C.M., Emmanuele G., Cefalù A.B., et al. Autosomal recessive hypercholesterolemia in a Sicilian kindred harboring the 432insA mutation of the ARH gene. Atherosclerosis 2003, 166:395-400.
12. Inazu A., Jiang X.C., Haraki T., et al. Genetic cholesteryl ester transfer protein deficiency caused by two prevalent mutations as a major determinant of increased levels of high density lipoprotein cholesterol. J Clin Invest 1994, 94:1872-1882.
13. Tada H., Kawashiri M.A., Noguchi T., et al. 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. Tada H., Kawashiri M.A., Noguchi T., et al. Clinical impact of heterozygous carrier of autosomal recessive hypercholesterolemia on asymptomatic hyperlipidemic patients: evidence from familial gene analysis. Circulation 2008, 118:S405.
15. Inazu A., Mabuchi H. High-HDL syndrome. Encyclopedic reference of genomic and proteomics in molecular medicine 2006, 1st ed., part 8:792-795. Springer.