Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
Zhang, Q; Cavallero, E; Hoffmann, MM; Cavanna, J; Kay, A; Charles, A; Braschi, S; Marz, W; Perlemuter, L; Jacotot, B; Galton, DJ.
Mutations at the lipoprotein lipase gene locus in subjects with diabetes mellitus, obesity and lipaemia.
Clin Sci (Lond). 1997; 93(4):335-341
Doi: 10.1042/cs0930335
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- Co-Autor*innen der Med Uni Graz
- März Winfried
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- Abstract:
- 1. The common association of obesity, diabetes mellitus and hyperlipidaemia may have a primary aetiological basis. Insulin resistance has been postulated as a possible cause, but defects in the plasma transport of triacylglycerol or fatty acids could also be primary determinants. 2. We have therefore studied 18 patients with diabetes mellitus, obesity and severe hypertriglyceridaemia for defects of a key protein involved in the clearance of plasma triacylglycerols, lipoprotein lipase. 3. DNA was prepared from leucocytes of 18 patients with the above syndrome, and exons encoding lipoprotein lipase were amplified by PCR. The products were sequenced using the dideoxy chain-termination method. 4. Eight of the subjects were found to possess genetic variants at the lipoprotein lipase gene locus. These were: (a) G579-->A, V108V; (b) G818-->A, G188E; (c) C829-->T, R192; (d) A1127-->G, N291S; (e) C1308-->G, F351L; (f) C1338-->A, T361T; and (g) C1595-->G, S447. Three of these, (c), (e) and (f), have not hitherto been described. Variant (f), appears to be a population polymorphism whose allele frequency in normolipidaemic diabetics was found to be 0.12 (162 chromosomes studied). The others are all rare at frequencies of < 0.01 and may contribute to the phenotype by impairing clearance of plasma triacylglycerols. 5. We conclude that genetic variants at the lipoprotein lipase locus occur commonly in subjects with this syndrome (four out of 18 subjects with probably functional mutants) and may affect the individual's response to obesity and diabetes mellitus for the development of lipaemia.
- Find related publications in this database (using NLM MeSH Indexing)
- Adult -
- Aged -
- Alleles -
- Autoradiography -
- Diabetes Mellitus - genetics
- Exons - genetics
- Female - genetics
- Humans - genetics
- Hypertriglyceridemia - genetics
- Lipoprotein Lipase - genetics
- Male - genetics
- Middle Aged - genetics
- Mutagenesis, Site-Directed - genetics
- Mutation - genetics
- Obesity - genetics
- Sequence Analysis, DNA - genetics
- Find related publications in this database (Keywords)
- diabetes mellitus
- lipaemia
- lipoprotein lipase
- mutations
- obesity