Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia

Journal of Internal Medicine

Volumn 272, Issue 2, 2012, Pages 185-196

  Surendran, R P ^a   Visser, M E ^a   Heemelaar, S ^a   Wang, J ^b   Peter, J ^a   Defesche, J C ^a   Kuivenhoven, J A ^a   Hosseini, M ^c,d   Peterfy M ^c,d   Kastelein, J J P ^a   Johansen, C T ^b   Hegele, R A ^b   Stroes, E S G ^a   Dallinga Thie, G M ^a  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

^b ROBARTS RESEARCH INSTITUTE   (Canada)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d CEDARS SINAI MEDICAL CENTER   (United States)

Author keywords

APOA5; APOC2; GPIHBP1; Lipoprotein lipase; LMF1; Triglycerides

Indexed keywords

APOLIPOPROTEIN A5; APOLIPOPROTEIN C2; GPI ANCHORED HIGH DENSITY LIPOPROTEIN BINDING PROTEIN 1; LIPASE MATURATION FACTOR 1; LIPOPROTEIN; LIPOPROTEIN LIPASE; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CONTROLLED STUDY; DNA SEQUENCE; FEMALE; FRAMESHIFT MUTATION; GAIN OF FUNCTION MUTATION; GENE EXPRESSION; GENE MUTATION; GENETIC VARIABILITY; HUMAN; HYPERTRIGLYCERIDEMIA; IN VITRO STUDY; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD;

ADULT; APOLIPOPROTEIN C-II; APOLIPOPROTEINS A; CARRIER PROTEINS; FEMALE; GENETIC TESTING; HUMANS; HYPERTRIGLYCERIDEMIA; LIPOPROTEIN LIPASE; MALE; MEMBRANE PROTEINS; MOLECULAR EPIDEMIOLOGY; MUTATION, MISSENSE; NETHERLANDS; PREVALENCE; SEVERITY OF ILLNESS INDEX;

EID: 84863986988     PISSN: 09546820     EISSN: 13652796     Source Type: Journal    
DOI: 10.1111/j.1365-2796.2012.02516.x     Document Type: Article

References (47)

1. de Graaf J, Couture P, Sniderman A. A diagnostic algorithm for the atherogenic apolipoprotein B dyslipoproteinemias. Nat Clin Pract Endocrinol Metab 2008; 4: 608-18.
2. Avis HJ, Scheffer HJ, Kastelein JJ, Dallinga-Thie GM, Wijburg FA. Pink-creamy whole blood in a 3-month-old infant with a homozygous deletion in the lipoprotein lipase gene. Clin Genet 2010; 77: 430-3.
3. Rahalkar AR, Hegele RA. Monogenic pediatric dyslipidemias: classification, genetics and clinical spectrum. Mol Genet Metab 2008; 93: 282-94.
4. Johansen CT, Kathiresan S, Hegele RA. Genetic determinants of plasma triglycerides. J Lipid Res 2011; 52: 189-206.
5. Brunzell JD. Familial lipoprotein lipase deficiency and other causes of chylomicronemia syndrome. In: Scriver CR, Sly WS, Valle D, eds. The Molecular Basis of Inherited Disease. New York: McGraw Hill, 1995; 1913-95.
6. Fojo SS, Stalenhoef AF, Marr K et al. A deletion mutation in the ApoC-II gene (ApoC-II Nijmegen) of a patient with a deficiency of apolipoprotein C-II. J Biol Chem 1988; 263: 17913-6.
7. Calandra S, Priore Oliva C, Tarugi P, Bertolini S. APOA5 and triglyceride metabolism, lesson from human APOA5 deficiency. Curr Opin Lipidol 2006; 17: 122-7.
8. Peterfy M, Ben-Zeev O, Mao HZ et al. Mutations in LMF1 cause combined lipase deficiency and severe hypertriglyceridemia. Nat Genet 2007; 39: 1483-7.
9. Cefalu AB, Noto D, Arpi ML et al. Novel LMF1 nonsense mutation in a patient with severe hypertriglyceridemia. J Clin Endocrinol Metab 2009; 94: 4584-90.
10. Beigneux AP, Davies BS, Gin P et al. Glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 plays a critical role in the lipolytic processing of chylomicrons. Cell Metab 2007; 5: 279-91.
11. Davies BS, Beigneux AP, Barnes RH 2nd et al. GPIHBP1 is responsible for the entry of lipoprotein lipase into capillaries. Cell Metab 2010; 12: 42-52.
12. Beigneux AP, Franssen R, Bensadoun A et al. Chylomicronemia with a mutant GPIHBP1 (Q115P) that cannot bind lipoprotein lipase. Arterioscler Thromb Vasc Biol 2009; 29: 956-62.
13. Franssen R, Young SG, Peelman F et al. Chylomicronemia with low postheparin lipoprotein lipase levels in the setting of GPIHBP1 defects. Circ CardiovascGenet 2010; 3: 169.
14. Olivecrona G, Ehrenborg E, Semb H et al. Mutation of conserved cysteines in the Ly6 domain of GPIHBP1 in familial chylomicronemia. J Lipid Res 2010; 51: 1535-45.
15. Coca-Prieto I, Kroupa O, Gonzalez-Santos P et al. Childhood-onset chylomicronaemia with reduced plasma lipoprotein lipase activity and mass: identification of a novel GPIHBP1 mutation. J Int Med 2011; 270: 224-8.
16. Wang J, Hegele RA. Homozygous missense mutation (G56R) in glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 (GPI-HBP1) in two siblings with fasting chylomicronemia (MIM 144650). Lipids Health Dis 2007; 6: 23.
17. Charriere S, Peretti N, Bernard S et al. GPIHBP1 C89F neomutation and hydrophobic C-terminal domain G175R mutation in two pedigrees with severe hyperchylomicronemia. J Clin Endocrinol Metab 2011; 96: E1675-9.
18. Young SG, Davies BS, Voss CV et al. GPIHBP1, an endothelial cell transporter for lipoprotein lipase. J Lipid Res 2011; 52: 1869-84.
19. Rios JJ, Shastry S, Jasso J et al. Deletion of GPIHBP1 causing severe chylomicronemia. J Inherit Metab Dis 2012; doi:
20. Voss CV, Davies BS, Tat S et al. Mutations in lipoprotein lipase that block binding to the endothelial cell transporter GPIHBP1. Proc Natl Acad Sci U S A 2011; 108: 7980-4.
21. Johansen CT, Wang J, Lanktree MB et al. An increased burden of common and rare lipid-associated risk alleles contributes to the phenotypic spectrum of hypertriglyceridemia. Arterioscler Thromb Vasc Biol 2011; 31: 1916-26.
22. Sunyaev S, Ramensky V, Koch I, Lathe W 3rd, Kondrashov AS, Bork P. Prediction of deleterious human alleles. Hum Mol Genet 2001; 10: 591-7.
23. Yin F, Doolittle MH, Peterfy M. A quantitative assay measuring the function of lipase maturation factor 1. J Lipid Res 2009; 50: 2265-9.
24. Davison PJ, Stalenhoef AF, Humphries SE. Apolipoprotein CII (apo CII) gene expression defect in an individual with familial apo CII deficiency. Biochem Biophys Res Commun 1987; 148: 320-8.
25. Dorfmeister B, Zeng WW, Dichlberger A et al. Effects of six APOA5 variants, identified in patients with severe hypertriglyceridemia, on in vitro lipoprotein lipase activity and receptor binding. Arterioscler Thromb Vasc Biol 2008; 28: 1866-71.
26. Wang J, Cao H, Ban MR et al. Resequencing genomic DNA of patients with severe hypertriglyceridemia (MIM 144650). Arterioscler Thromb Vasc Biol 2007; 27: 2450-5.
27. Wright WT, Young IS, Nicholls DP, Graham CA. Genetic screening of the LPL gene in hypertriglyceridaemic patients. Atherosclerosis 2008; 199: 187-92.
28. Evans D, Arzer J, Aberle J, Beil FU. Rare variants in the lipoprotein lipase (LPL) gene are common in hypertriglyceridemia but rare in Type III hyperlipidemia. Atherosclerosis 2011; 214: 386-90.
29. van Hoek M, Dallinga-Thie GM, Steyerberg EW, Sijbrands EJ. Diagnostic value of post-heparin lipase testing in detecting common genetic variants in the LPL and LIPC genes. Eur J Hum Genet 2009; 17: 1386-93.
30. Stroes ES, Nierman MC, Meulenberg JJ et al. Intramuscular administration of AAV1-lipoprotein lipase S447X lowers triglycerides in lipoprotein lipase-deficient patients. Arterioscler Thromb Vasc Biol 2008; 28: 2303-4.
31. Talmud PJ, Hawe E, Martin S et al. Relative contribution of variation within the APOC3/A4/A5 gene cluster in determining plasma triglycerides. Hum Mol Genet 2002; 11: 3039-46.
32. Dallinga-Thie GM, van Tol A, Hattori H, van Vark-van der Zee LC, Jansen H, Sijbrands EJ. Plasma apolipoprotein A5 and triglycerides in type 2 diabetes. Diabetologia 2006; 49: 1505-11.
33. Beigneux AP, Gin P, Davies BS et al. Highly conserved cysteines within the Ly6 domain of GPIHBP1 are crucial for the binding of lipoprotein lipase. J Biol Chem 2009; 284: 30240-7.
34. Sonnenburg WK, Yu D, Lee EC et al. GPIHBP1 stabilizes lipoprotein lipase and prevents its inhibition by angiopoietin-like 3 and angiopoietin-like 4. J Lipid Res 2009; 50: 2421-9.
35. Miller M, Stone NJ, Ballantyne C et al. Triglycerides and cardiovascular disease: a scientific statement from the American Heart Association. Circulation 2011; 123: 2292-333.
36. Zhang H, Henderson H, Gagne SE et al. Common sequence variants of lipoprotein lipase: standardized studies of in vitro expression and catalytic function. Biochim Biophys Acta 1996; 1302: 159-66.
37. Bruin T, Tuzgol S, Mulder WJ et al. A compound heterozygote for lipoprotein lipase deficiency, Val69-->Leu and Gly188-->Glu: correlation between in vitro LPL activity and clinical expression. J Lipid Res 1994; 35: 438-45.
38. Bijvoet SM, Bruin T, Tuzgol S, Bakker HD, Hayden MR, Kastelein JJ. Homozygosity for a mutation in the lipoprotein lipase gene (Gly139-->Ser) causes chylomicronaemia in a boy of Spanish descent. Hum Genet 1994; 93: 339-43.
39. Bruin T, Tuzgol S, van Diermen DE et al. Recurrent pancreatitis and chylomicronemia in an extended Dutch kindred is caused by a Gly154-->Ser substitution in lipoprotein lipase. J Lipid Res 1993; 34: 2109-19.
40. Ma YH, Bruin T, Tuzgol S et al. Two naturally occurring mutations at the first and second bases of codon aspartic acid 156 in the proposed catalytic triad of human lipoprotein lipase. In vivo evidence that aspartic acid 156 is essential for catalysis. J Biol Chem 1992; 267: 1918-23.
41. Bruin T, Kastelein JJ, Van Diermen DE et al. A missense mutation Pro157 Arg in lipoprotein lipase (LPLNijmegen) resulting in loss of catalytic activity. Eur J Biochem 1992; 208: 267-72.
42. Reina M, Brunzell JD, Deeb SS. Molecular basis of familial chylomicronemia: mutations in the lipoprotein lipase and apolipoprotein C-II genes. J Lipid Res 1992; 33: 1823-32.
43. Henderson HE, Ma Y, Liu MS et al. Structure-function relationships of lipoprotein lipase: mutation analysis and mutagenesis of the loop region. J Lipid Res 1993; 34: 1593-602.
44. Ma Y, Liu MS, Chitayat D et al. Recurrent missense mutations at the first and second base of codon Arg243 in human lipoprotein lipase in patients of different ancestries. Hum Mutat 1994; 3: 52-8.
45. Ma Y, Wilson BI, Bijvoet S et al. A missense mutation (Asp250----Asn) in exon 6 of the human lipoprotein lipase gene causes chylomicronemia in patients of different ancestries. Genomics 1992; 13: 649-53.
46. Nierman MC, Peter J, Khoo KL, Defesche JC. Lipoprotein lipase gene analyses in one Turkish family and three different Chinese families with severe hypertriglyceridaemia: one novel and several established mutations. J Inherit Metab Dis 2006; 29: 686.
47. Rahalkar AR, Giffen F, Har B et al. Novel LPL mutations associated with lipoprotein lipase deficiency: two case reports and a literature review. Can J Physiol Pharmacol 2009; 87: 151-60.