title: Lipoprotein lipase activity and common gene variants in severely hypertriglyceridemic patients with and without diabetes.
abstract: OBJECTIVE
  In severe type IV hypertriglyceridemia (triglyceride levels >10 g/l), it is yet unknown whether lipoprotein lipase (LPL) differs according to the presence or not of diabetes.
  
  
  METHODS
  We compared LPL activity and the presence of four common variants in the LPL gene (Asp 9 Asn (exon 2), Gly 188 Glu (exon 5), Asn 291 Ser (exon 6) and Ser 447 Ter (exon 9)) in a group of 34 patients of whom 17 presented diabetes mellitus.
  
  
  RESULTS
  Maximum triglyceride, cholesterol levels and distribution of apolipoprotein E phenotypes did not differ between the two subgroups. Mean post-heparin LPL activity was lower in non-diabetic compared to diabetic patients (9.74 vs. 12.98 micromol FFA/ml/h, p=0.033). Four patients were carrying a mutation in exon 9 (1 non-diabetic), 6 patients in exon 2 (4 non-diabetic) and 1 patient in the non-diabetic subgroup in exon 5. All mutations were at the heterozygous state.
  
  
  CONCLUSIONS
  We found that LPL activity was lower in type IV hyperlipidemia in the absence of diabetes. Genetic defects in the LPL gene that could lead to this lower LPL tended to be more frequently observed in patients without diabetes. These data suggest that the pathomechanisms which contribute to severe type IV hyperlipidemia are different according to the presence or not of diabetes.
authors.affiliation: Service d'Endocrinologie-métabolisme, Unités de prévention des maladies cardiovasculaires et Institut Fédératif de recherche Coeur Muscle et Vaisseaux, Assistance-Publique Hôpitaux de Paris, Paris, France.
authors.forename: Rita
authors.initials: R
authors.lastname: Chadarevian
authors.forename: Luc
authors.initials: L
authors.lastname: Foubert
authors.forename: Isabel
authors.initials: I
authors.lastname: Beucler
authors.forename: Marie-Laure
authors.initials: ML
authors.lastname: Kottler
authors.forename: Alain
authors.initials: A
authors.lastname: Raisonnier
authors.forename: Ali
authors.initials: A
authors.lastname: Ajlouni
authors.forename: Philippe
authors.initials: P
authors.lastname: Giral
authors.forename: Gérard
authors.initials: G
authors.lastname: Turpin
authors.forename: Eric
authors.initials: E
authors.lastname: Bruckert
mesh_terms: D000328:Adult; D001053:Apolipoproteins / Q000235:genetics; D001216:Asparagine / Q000235:genetics; D001224:Aspartic Acid / Q000235:genetics; D048909:Diabetes Complications; D003920:Diabetes Mellitus / Q000201:enzymology / Q000235:genetics; D005260:Female; D014644:Genetic Variation; D018698:Glutamic Acid / Q000235:genetics; D005998:Glycine / Q000235:genetics; D006801:Humans; D006953:Hyperlipoproteinemia Type IV / Q000150:complications / Q000201:enzymology* / Q000235:genetics; D008071:Lipoprotein Lipase / Q000097:blood* / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D012694:Serine / Q000235:genetics; D012720:Severity of Illness Index
chemical_list: D001053:Apolipoproteins; D001224:Aspartic Acid; D018698:Glutamic Acid; D012694:Serine; D001216:Asparagine; D008071:Lipoprotein Lipase; D005998:Glycine