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Analysis of the insulin-sensitive phosphodiesterase 3B gene in type 2 diabetes.

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.
AuthorsR Sano, T Miki, Y Suzuki, F Shimada, M Taira, A Kanatsuka, H Makino, N Hashimoto, Y Saito
JournalDiabetes research and clinical practice (Diabetes Res Clin Pract) Vol. 54 Issue 2 Pg. 79-88 (Nov 2001) ISSN: 0168-8227 [Print] Ireland
PMID11640991 (Publication Type: Comparative Study, Journal Article)
Chemical References
  • DNA Primers
  • Glycated Hemoglobin A
  • Triglycerides
  • Cholesterol
  • 3',5'-Cyclic-AMP Phosphodiesterases
  • Cyclic Nucleotide Phosphodiesterases, Type 3
  • PDE3B protein, human
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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