Abstract |
We screened for mutations in the gene of insulin-sensitive phosphodiesterase 3B (PDE3B), which regulates antilipolytic actions of insulin via reduction of intracellular cyclic AMP levels, in Japanese patients with type 2 diabetes mellitus and lipoatrophic diabetes mellitus using single-stranded conformation polymorphism analysis and Southern analysis and investigated frequencies of variable number of tandem repeats. A silent polymorphism at the Arg463 codon (AGG-->AGA) in exon 4 was identified after examining all 16 exons and exon-intron splicing junctions of the gene. This polymorphism was found in 53 of 100 subjects with type 2 diabetes mellitus, 2 of 5 lipoatrophic diabetic patients and 24 of 50 control subjects, without any significant difference in allele frequency between groups. An EcoRI restriction fragment length polymorphism was identified in patients with type 2 diabetes mellitus and control subjects, again with no differences in occurrence. The allelic distribution of two polymorphic tandem repeats sequences in introns 5 and 12 of the gene did not differ significantly between patients with type 2 diabetes mellitus and control subjects. In conclusion, alterations in the PDE3B gene are unlikely to contribute importantly to the pathogenesis of type 2 diabetes mellitus or lipoatrophic diabetes mellitus in Japan.
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Authors | R Sano, T Miki, Y Suzuki, F Shimada, M Taira, A Kanatsuka, H Makino, N Hashimoto, Y Saito |
Journal | Diabetes research and clinical practice
(Diabetes Res Clin Pract)
Vol. 54
Issue 2
Pg. 79-88
(Nov 2001)
ISSN: 0168-8227 [Print] Ireland |
PMID | 11640991
(Publication Type: Comparative Study, Journal Article)
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Chemical References |
- DNA Primers
- Glycated Hemoglobin A
- Triglycerides
- Cholesterol
- 3',5'-Cyclic-AMP Phosphodiesterases
- Cyclic Nucleotide Phosphodiesterases, Type 3
- PDE3B protein, human
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Topics |
- 3',5'-Cyclic-AMP Phosphodiesterases
(genetics)
- Alleles
- Asian People
- Blotting, Southern
- Body Mass Index
- Cholesterol
(blood)
- Cyclic Nucleotide Phosphodiesterases, Type 3
- DNA Primers
- Diabetes Mellitus, Lipoatrophic
(enzymology, genetics)
- Diabetes Mellitus, Type 2
(enzymology, genetics)
- Dinucleotide Repeats
- Gene Frequency
- Glycated Hemoglobin
(analysis)
- Humans
- Introns
- Japan
- Polymerase Chain Reaction
- Polymorphism, Genetic
- Polymorphism, Single-Stranded Conformational
- Reference Values
- Triglycerides
(blood)
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