Proteinuria and severe mixed dyslipidemia associated with a novel APOAV gene mutation

Journal of Clinical Lipidology

Volumn 4, Issue 4, 2010, Pages 310-313

  Soran, Handrean ^a   Charlton Menys, Valentine ^a   Hegele, Robert ^b   Wang, Jian ^b   Benbow, Emyr W ^c   Roberts, Ian ^d   Wood, Grahame ^e   Durrington, Paul ^a  

^a UNIVERSITY OF MANCHESTER   (United Kingdom)

^b ROBARTS RESEARCH INSTITUTE   (Canada)

^c Manchester Children's Hospital Trust   (United Kingdom)

^d JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^e HOPE HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE AMINOTRANSFERASE; ALLOPURINOL; APOLIPOPROTEIN A1; APOLIPOPROTEIN A5; APOLIPOPROTEIN B; APOLIPOPROTEIN E2; CHOLESTEROL; DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR; FIBRIC ACID DERIVATIVE; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; MESSENGER RNA; METFORMIN; TRIACYLGLYCEROL; VERY LOW DENSITY LIPOPROTEIN CHOLESTEROL; APOA5 PROTEIN, HUMAN; APOLIPOPROTEIN A;

ADULT; ALANINE AMINOTRANSFERASE BLOOD LEVEL; ARTICLE; CASE REPORT; CHOLESTEROL BLOOD LEVEL; DISEASE SEVERITY; DNA SEQUENCE; DYSLIPIDEMIA; ECHOGRAPHY; EXON; FAMILY HISTORY; GENE MUTATION; GENETIC ASSOCIATION; GLOMERULOPATHY; HETEROZYGOSITY; HISTOPATHOLOGY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; HYPERLIPOPROTEINEMIA; INTRON; KIDNEY BIOPSY; LIPOPROTEIN GLOMERULOPATHY; LOW FAT DIET; MALE; MEDICAL HISTORY; NON INSULIN DEPENDENT DIABETES MELLITUS; OBESITY; PRIORITY JOURNAL; PROTEINURIA; SPLENOMEGALY; TRIACYLGLYCEROL BLOOD LEVEL; TUBEROERUPTIVE XANTHOMATA; URINALYSIS; XANTHOMA; BLOOD; GENETICS; HETEROZYGOTE; HYPERLIPOPROTEINEMIA TYPE 3; KIDNEY; MUTATION; PATHOLOGY; RNA SPLICING;

ADULT; APOLIPOPROTEINS A; DYSLIPIDEMIAS; HETEROZYGOTE; HUMANS; HYPERLIPOPROTEINEMIA TYPE III; KIDNEY; MALE; MUTATION; OBESITY; PROTEINURIA; RNA SPLICING; TRIGLYCERIDES;

EID: 79959601266     PISSN: 19332874     EISSN: 18764789     Source Type: Journal    
DOI: 10.1016/j.jacl.2010.06.004     Document Type: Article

References (15)

1. Saito T, Matsunaga A, Oikawa S. Impact of lipoprotein glomerulopathy on the relationship between lipids and renal diseases. Am J Kidney Dis. 2006;47:199-211.
2. Durrington P. Hyperlipidaemia Diagnosis & Management. 3rd ed.- London: Hodder Arnold; 2007.
3. Liberopoulos E, Siamopoulos K, Elisaf M. Apolipoprotein E and renal disease. Am J Kidney Dis. 2004;43:223-233.
4. Tai ES, Ordovas JM. Clinical significance of apolipoprotein A5. Curr Opin Lipidol. 2008;19:349-354.
5. Manual of Laboratory Operations, Lipid Reseach Clinics, Program, Vol. 1 Lipid and Lipoprotein Analysis. DHEW Publication No (NIH) 75-628, Bethesda, MD. Washington, DC: US Govt. Printing office; 1974.
6. Fredrickson DS, Morganroth J, Levy RI. Type III hyperlipoproteinemia: An analysis of two contemporary definitions. Ann Intern Med. 1975;82:150-157.
7. Blom DJ, O'Neill FH, Marais AD. Screening for dysbetalipoproteinemia by plasma cholesterol and apolipoprotein B concentrations. Clin Chem. 2005;51:904-907.
8. Wang J, Ban MR, Zou GY, et al. Polygenic determinants of severe hypertriglyceridemia. Hum Mol Genet. 2008;17:2894-2899.
9. Henneman P, Schaap FG, Havekes LM, et al. Plasma apoAV levels are markedly elevated in severe hypertriglyceridemia and positively correlated with the APOA5 S19W polymorphism. Atherosclerosis. 2007; 193:129-134.
10. Grosskopf I, Baroukh N, Lee SJ, et al. Apolipoprotein A-V deficiency results in marked hypertriglyceridemia attributable to decreased lipolysis of triglyceride-rich lipoproteins and removal of their remnants. Arterioscler Thromb Vasc Biol. 2005;25:2573-2579.
11. Schaap FG, Nierman MC, Berbee JF, et al. Evidence for a complex relationship between apoA-V and apoC-III in patients with severe hypertriglyceridemia. J Lipid Res. 2006;47:2333-2339.
12. Lookene A, Beckstead JA, Nilsson S, Olivecrona G, Ryan RO. Apolipoprotein A-V-heparin interactions: Implications for plasma lipoprotein metabolism. J Biol Chem. 2005;280:25383-25387.
13. Merkel M, Loeffler B, Kluger M, et al. Apolipoprotein AVaccelerates plasma hydrolysis of triglyceride-rich lipoproteins by interaction with proteoglycan-bound lipoprotein lipase. J Biol Chem. 2005;280: 21553-21560.
14. Evans D, Seedorf U, Beil FU. Polymorphisms in the apolipoprotein A5 (APOA5) gene and type III hyperlipidemia. Clin Genet. 2005; 68:369-372.
15. Marcais C, Verges B, Charriere S, et al. ApoAa5 Q139X truncation predisposes to late-onset hyperchylomicronemia due to lipoprotein lipase impairment. J Clin Invest. 2005;115:2862-2869.