Molecular analysis of chylomicronemia in a clinical laboratory setting: Diagnosis of 13 cases of lipoprotein lipase deficiency

Clinica Chimica Acta

Volumn 429, Issue , 2014, Pages 61-68

  Martín Campos, Jesús M ^a,b,c   Julve, Josep ^a,b,c   Roig, Rosa ^a,b,d   Martínez, Susana ^b,d   Errico, Teresa Laura ^a,c   Martínez Couselo, Silvia ^a,c   Escolà Gil, Joan Carles ^a,b,c   Méndez González, Jesús ^a   Blanco Vaca, Francisco ^a,b,c,d  

^a BIOMEDICAL RESEARCH INSTITUTE SANT PAU IIB SANT PAU   (Spain)

^b INSTITUTO DE SALUD CARLOS III   (Spain)

^c UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

^d HOSPITAL DE LA SANTA CREU I SANT PAU   (Spain)

Author keywords

Apolipoprotein A V; GPIHBP1; LPL; Severe hypertriglyceridemia; Type I hyperlipidemia; Type V hyperlipidemia

Indexed keywords

APOLIPOPROTEIN A5; APOLIPOPROTEIN C2; GENOMIC DNA; LIPOPROTEIN LIPASE;

ADOLESCENT; ADULT; ALLELE; APOA5 GENE; APOC2 GENE; ARTICLE; CELL STRAIN COS1; CHILD; CLINICAL ARTICLE; CLINICAL LABORATORY; CLINICAL PRACTICE; CONTROLLED STUDY; DNA SEQUENCE; FEMALE; GENE; GENETIC ANALYSIS; GENETIC VARIABILITY; GPIHBP1 GENE; HETEROZYGOSITY; HOMOZYGOSITY; HOSPITAL LABORATORY; HUMAN; HYPERLIPIDEMIA; HYPERLIPOPROTEINEMIA TYPE 1; IN VITRO STUDY; INFANT; LOSS OF FUNCTION MUTATION; LPL GENE; MALE; MIDDLE AGED; MOLECULAR DIAGNOSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN FUNCTION; SCHOOL CHILD; SPAIN; YOUNG ADULT;

APOLIPOPROTEIN A-V; GPIHBP1; LPL; SEVERE HYPERTRIGLYCERIDEMIA; TYPE I HYPERLIPIDEMIA; TYPE V HYPERLIPIDEMIA;

ADOLESCENT; ADULT; ANIMALS; APOLIPOPROTEIN C-II; APOLIPOPROTEINS A; CERCOPITHECUS AETHIOPS; CHILD; CHILD, PRESCHOOL; CLINICAL LABORATORY TECHNIQUES; COS CELLS; FEMALE; GENETIC VARIATION; HUMANS; HYPERLIPIDEMIAS; INFANT; INFANT, NEWBORN; LIPOPROTEIN LIPASE; MALE; MIDDLE AGED; MUTAGENESIS; RECEPTORS, LIPOPROTEIN; YOUNG ADULT;

EID: 84890053791     PISSN: 00098981     EISSN: 18733492     Source Type: Journal    
DOI: 10.1016/j.cca.2013.11.025     Document Type: Article

References (60)

1. Brunzell J.D., Bierman E.L. Chylomicronemia syndrome. Interaction of genetic and acquired hypertriglyceridemia. Med Clin North Am 1982, 66:455-463.
2. Santamarina-Fojo S. The familial chylomicronemia syndrome. Endocrinol Metab Clin North Am 1998, 27:551-567.
3. Brunzell J.D. Familial lipoprotein lipase deficiency and other causes of the chylomicronemia syndrome. The metabolic and molecular basis of inherited disease 1995, 1913-1932. McGraw-Hill, New York. C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.).
4. Evans V., Kastelein J.J. Lipoprotein lipase deficiency-rare or common?. Cardiovasc Drugs Ther 2002, 16:283-287.
5. Truninger K., Schmid P.A., Hoffmann M.M., Bertschinger P., Ammann R.W. Recurrent acute and chronic pancreatitis in two brothers with familial chylomicronemia syndrome. Pancreas 2006, 32:215-219.
6. Rahalkar A.R., 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, 87:151-160.
7. Munigoti S.P., Rees A. Hypertriglyceridemia, LPL deficiency and pancreatitis - pathogenesis and therapeutic options. Br J Diabetes Vasc Dis 2011, 11:107-112.
8. Fredrickson D.S. An international classification of hyperlipidemias and hyperlipoproteinemias. Ann Intern Med 1971, 75:471-472.
9. Hayden M.R., Ma Y. Molecular genetics of human lipoprotein lipase deficiency. Mol Cell Biochem 1992, 113:171-176.
10. Nagasaka H., Kikuta H., Chiba H., et al. Two cases with transient lipoprotein lipase (LPL) activity impairment: evidence for the possible involvement of an LPL inhibitor. Eur J Pediatr 2003, 162:132-138.
11. Ashraf A.P., Beukelman T., Pruneta-Deloche V., Kelly D.R., Garg A. Type 1 hyperlipoproteinemia and recurrent acute pancreatitis due to lipoprotein lipase antibody in a young girl with Sjogren's syndrome. J Clin Endocrinol Metab 2011, 96:3302-3307.
12. Johansen C.T., Kathiresan S., Hegele R.A. Genetic determinants of plasma triglycerides. J Lipid Res 2011, 52:189-206.
13. 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-E1679.
14. 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 Intern Med 2011, 270:224-228.
15. Franssen R., Young S.G., Peelman F., et al. Chylomicronemia with low postheparin lipoprotein lipase levels in the setting of GPIHBP1 defects. Circ Cardiovasc Genet 2010, 3:169-178.
16. Johansen C.T., Hegele R.A. Genetic bases of hypertriglyceridemic phenotypes. Curr Opin Lipidol 2011, 22:247-253.
17. Johansen C.T., Wang J., McIntyre A.D., et al. Excess of rare variants in non-genome-wide association study candidate genes in patients with hypertriglyceridemia. Circ Cardiovasc Genet 2012, 5:66-72.
18. 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, 51:1535-1545.
19. Rios J.J., Shastry S., Jasso J., et al. Deletion of GPIHBP1 causing severe chylomicronemia. J Inherit Metab Dis 2012, 35:531-540.
20. Surendran R.P., Visser M.E., Heemelaar S., et al. Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia. J Intern Med 2012, 272:185-196.
21. Wang J., Hegele R.A. 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.
22. Cefalu A.B., Noto D., Arpi M.L., et al. Novel LMF1 nonsense mutation in a patient with severe hypertriglyceridemia. J Clin Endocrinol Metab 2009, 94:4584-4590.
23. Semenkovich C.F., Chen S.H., Wims M., Luo C.C., Li W.H., Chan L. Lipoprotein lipase and hepatic lipase mRNA tissue specific expression, developmental regulation, and evolution. J Lipid Res 1989, 30:423-431.
24. Baggio G., Manzato E., Gabelli C., et al. Apolipoprotein C-II deficiency syndrome. Clinical features, lipoprotein characterization, lipase activity, and correction of hypertriglyceridemia after apolipoprotein C-II administration in two affected patients. J Clin Invest 1986, 77:520-527.
25. S447X) on postprandial chylomicron metabolism in lipoprotein lipase-deficient patients. J Clin Endocrinol Metab 2012, 97:1635-1644.
26. Mendoza-Barberà E., Julve J., Nilsson S.K., et al. Structural and functional analysis of APOA5 mutations identified in patients with severe hypertriglyceridemia. J Lipid Res 2013, 54:649-661.
27. Higuchi R., Krummel B., Saiki R. A general method of in vitro preparation and specific mutagenesis of DNA fragments: study of protein and DNA interactions. Nucleic Acid Res 1988, 16:7351-7367.
28. Wang J., Cao H., Ban M.R., et al. Resequencing genomic DNA of patients with severe hypertriglyceridemia (MIM 144650). Arterioscler Thromb Vasc Biol 2007, 27:2450-2455.
29. Mailly F., Palmen J., Muller D.P., et al. Familial lipoprotein lipase (LPL) deficiency: a catalogue of LPL gene mutations identified in 20 patients from the UK, Sweden, and Italy. Hum Mutat 1997, 10:465-473.
30. 188) of human lipoprotein lipase imparting functional deficiency. J Biol Chem 1990, 265:5910-5916.
31. Ma Y., Henderson H.E., Murthy V., et al. A mutation in the human lipoprotein lipase gene as the most common cause of familial chylomicronemia in French Canadians. N Engl J Med 1991, 324:1761-1766.
32. Ma Y., Liu M.-S., 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 (pages 52-58). Hum Mutat 1994, 3:52-58.
33. Ma Y., Wilson B.I., 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, 13:649-653.
34. Hooper A.J., Crawford G.M., Brisbane J.M., et al. Familial lipoprotein lipase deficiency caused by known (G188E) and novel (W394X) LPL gene mutations. Ann Clin Biochem 2008, 45:102-105.
35. Exome Variant Server NHLBI Exome Sequencing Project (ESP), Seattle, WA http://evs.gs.washington.edu/EVS/.
36. Hata A., Robertson M., Emi M., Lalouel J.M. Direct detection and automated sequencing of individual alleles after electrophoretic strand separation: identification of a common nonsense mutation in exon 9 of the human lipoprotein lipase gene. Nucleic Acid Res 1990, 18:5407-5411.
37. Julve J., Escola-Gil J.C., Rotllan N., et al. Human apolipoprotein A-II determines plasma triglycerides by regulating lipoprotein lipase activity and high-density lipoprotein proteome. Arterioscler Thromb Vasc Biol 2010, 30:232-238.
38. Rouis M., Lohse P., Dugi K.A., et al. Homozygosity for two point mutations in the lipoprotein lipase (LPL) gene in a patient with familial LPL deficiency: LPL(Asp9→Asn, Tyr262→His). J Lipid Res 1996, 37:651-661.
39. Reymer P.W.A., Gagné E., Groenemeyer B.E., et al. A lipoprotein lipase mutation (Asn291Ser) is associated with reduced HDL cholesterol levels in premature atherosclerosis. Nat Genet 1995, 10:28-34.
40. Zhang H., Henderson H., Gagne S.E., et al. Common sequence variants of lipoprotein lipase: standardized studies of in vitro expression and catalytic function. Biochim Biophys Acta 1996, 1302:159-166.
41. Gerdes C., Fisher R.M., Nicaud V., et al. Lipoprotein lipase variants D9N and N291S are associated with increased plasma triglyceride and lower high-density lipoprotein cholesterol concentrations. Studies in the fasting and postprandial states: the European Atherosclerosis Research Studies. Circulation 1997, 96:733-740.
42. Julve J., Cirera S., Reina M., et al. Diagnosis of familial chylomicronemia due to lipoprotein lipase deficiency: clinical, biochemical and genetic study of one patient and analysis of mutations identified in ten other patients. Clin Invest Arterioscler 2000, 12:191-198.
43. Talmud P.J., 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, 11:3039-3046.
44. Zhang M.Q. Statistical features of human exons and their flanking regions. Hum Mol Genet 1998, 7:919-932.
45. Talmud P.J., Palmen J., Putt W., Lins L., Humphries S.E. Determination of the functionality of common APOA5 polymorphisms. J Biol Chem 2005, 280:28215-28220.
46. Wang J., Ban M.R., Kennedy B.A., et al. APOA5 variants are markers for classic hyperlipoproteinemia phenotypes and hypertriglyceridemia. Nat Clin Pract Cardiovasc Med 2008, 5:730-737.
47. Priore Oliva C., Carubbi F., Schaap F.G., Bertolini S., Calandra S. Hypertriglyceridaemia and low plasma HDL in a patient with apolipoprotein A-V deficiency due to a novel mutation in the APOA5 gene. J Intern Med 2008, 263:450-458.
48. Pisciotta L., Fresa R., Bellocchio A., et al. Two novel rare variants of APOA5 gene found in subjects with severe hypertriglyceridemia. Clin Chim Acta 2011, 412:2194-2198.
49. Fredrickson D.S., Goldstein J.L., Brown M.S. The familial hyperlipoproteinemias. The metabolic basis of inherited disease 1978, 604. McGraw-Hill, New York. J.B. Stanbury, J.B. Wyngaarden, D.S. Fredrickson (Eds.).
50. Reina M., Brunzell J.D., Deeb S.S. Molecular basis of familial chylomicronemia: mutations in the lipoprotein lipase and apolipoprotein C-II genes. J Lipid Res 1992, 33:1823-1832.
51. Priore Oliva C., Pisciotta L., Li Volti G., et al. Inherited apolipoprotein A-V deficiency in severe hypertriglyceridemia. Arterioscler Thromb Vasc Biol 2005, 25:411-417.
52. Dussaillant C., Serrano V., Maiz A., et al. APOA5 Q97X mutation identified through homozygosity mapping causes severe hypertriglyceridemia in a Chilean consanguineous family. BMC Med Genet 2012, 13:106.
53. Kao J.T., Wen H.C., Chien K.L., Hsu H.C., Lin S.W. A novel genetic variant in the apolipoprotein A5 gene is associated with hypertriglyceridemia. Hum Mol Genet 2003, 12:253-2539.
54. Hubacek J.A., Skodova Z., Adamkova V., Lanska V., Poledne R. Sex-specific effect of APOAV variant (Val153>Met) on plasma levels of high-density lipoprotein cholesterol. Metabolism 2005, 54:1632-1635.
55. Yin R.X., Li Y.Y., Liu W.Y., Zhang L., Wu J.Z. Interactions of the apolipoprotein A5 gene polymorphisms and alcohol consumption on serum lipid levels. PLoS One 2011, 6:e17954.
56. Nilsson S.K., Heeren J., Olivecrona G., Merkel M. Apolipoprotein A-V; a potent triglyceride reducer. Atherosclerosis 2011, 219:15-21.
57. Martín-Campos J.M., Rico N., Bonet R., Mayoral C., Ordóñez-Llanos J., Blanco-Vaca F. Apolipoprotein A5 S19W may play a role in dysbetalipoproteinemia in patients with the apo E2/E2 genotype. Clin Chem 2006, 52:1974-1975.
58. Ariza M.J., Sánchez-Chaparro M.A., Barón F.J., et al. Additive effects of LPL, APOA5 and APOE variant combinations on triglyceride levels and hypertriglyceridemia: results of the ICARIA genetic sub-study. BMC Med Genet 2010, 11:66-75.
59. Kryukov G.V., Pennacchio L.A., Sunyaev S.R. Most rare missense alleles are deleterious in humans: implications for complex disease and association studies. Am J Hum Genet 2007, 80:727-738.
60. 1000 Genomes Project Consortium. An integrated map of genetic variation from 1092 human genomes. Nature 2012, 491:56-65.