Rarity of the Asn291Ser mutation of lipoprotein lipase gene in Japanese NIDDM patients

Diabetes Research and Clinical Practice

Volumn 34, Issue 3, 1997, Pages 181-182

  Arai, Katsumi ^a   Kajimoto, Yoshitaka ^a   Yamasaki, Yoshimitsu ^a  

^a OSAKA UNIVERSITY MEDICAL SCHOOL   (Japan)

Author keywords

Japanese; Lipoprotein lipase; Polymorphism

Indexed keywords

ASPARAGINE; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LIPOPROTEIN LIPASE; SERINE; TRIACYLGLYCEROL;

ADOLESCENT; ADULT; AGED; AMINO ACID SUBSTITUTION; CONTROLLED STUDY; FEMALE; HUMAN; LIPOPROTEIN METABOLISM; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NON INSULIN DEPENDENT DIABETES MELLITUS; SHORT SURVEY;

EID: 0031056318     PISSN: 01688227     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0168-8227(96)01345-9     Document Type: Article

References (4)

1. [1] Reymer, P.W.A., Gagné, E. and Groenemeyer, B.E. et al. (1995) A lipoprotein lipase mutation (Asn291Ser) is associated with reduced HDL cholesterol levels in premature atherosclerosis. Nat. Genet. 10, 28-34.
2. [2] Reymer, P.W.A., Groenemeyer, B.E. and Gagné, E. et al. (1995) A frequently occurring mutation in the lipoprotein lipase gene (Asn291Ser) contributes to the expression of familial combined hyperlipidemia. Hum. Mol. Genet. 4, 1543-1549.
3. 291→»Ser human lipoprotein lipase is associated with reduced catalytic activity and does not influence binding to heparin. FEBS Lett. 367, 257-262.
4. [4] Fisher, R.M., Mailly, F. and Peacock, R.E. et al. (1995) Interaction of the lipoprotein lipase asparagine 291 → serine mutation with body mass index determines elevated plasma triacylglycerol concentrations: a study in hyperlipidemic subjects, myocardial infarction survivors, and healthy adults. J. Lipid Res. 36, 2104-2112.