Detection of variants in the mitochondrial glycerophosphate dehydrogenase gene in Japanese NIDDM patients

Diabetologia

Volumn 40, Issue 3, 1997, Pages 339-343

  Takeuchi, Y ^a   Matsutani, A ^a,b   Oka, Y ^a  

^a YAMAGUCHI UNIVERSITY   (Japan)

^b YAMAGUCHI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Amino acid variants; Beta cells; mGPDH gene; NIDDM; PCR SSCP

Indexed keywords

GLYCEROL 3 PHOSPHATE DEHYDROGENASE;

ADULT; AGED; ARTICLE; CONTROLLED STUDY; DISEASE PREDISPOSITION; FEMALE; HEREDITY; HUMAN; JAPAN; MAJOR CLINICAL STUDY; MALE; MOLECULAR BIOLOGY; NON INSULIN DEPENDENT DIABETES MELLITUS; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM;

AMINO ACID SEQUENCE; BASE SEQUENCE; CODON; DIABETES MELLITUS, TYPE 2; DNA PRIMERS; EXONS; FEMALE; GENE FREQUENCY; GENOTYPE; GLYCEROLPHOSPHATE DEHYDROGENASE; HUMANS; JAPAN; MALE; MIDDLE AGED; MITOCHONDRIA; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; REFERENCE VALUES; REGULATORY SEQUENCES, NUCLEIC ACID; VARIATION (GENETICS);

EID: 0031017349     PISSN: 0012186X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s001250050684     Document Type: Article

References (34)

1. Matsutani A, Kolanyi L, Cox N, Permutt MA (1990) Polymorphisms of GLUT2 and GLUT4 Genes. Diabetes 39: 1534-1542
2. Noda K, Matsutani A, Tanizawa Y et al. (1993) Polymorphic microsatellite repeat markers at the glucokinase gene locus are positively associated with non-insulin dependent diabetes mellitus in Japanese. Diabetes 42: 1147-1152
3. Tao T, Tanizawa Y, Matsutani A, Matsubara A, Kaneko T, Kaku K (1995) HepG2/erythrocyte glucose transporter (GLUT1) gene in NIDDM: a population association study and molecular scanning in Japanese subjects. Diabetologia 38: 942-947
4. Matsubara A, Tanizawa Y, Matsutani A, Kaneko T, Kaku K (1995) Sequence variations of the pancreatic islet/liver glucose transporter (GLUT2) gene in Japanese subjects with non-insulin-dependent diabetes mellitus. J Clin Endocrinol Metab 80: 3131-3135
5. Froguel P, Zouali H, Vionnet N et al. (1993) Familial hyperglycemia due to mutations in glucokinase. Definition of a subset of diabetes mellitus. N Engl J Med 328: 697-702
6. Katagiri H, Asano T, Ishihara H et al. (1992) Nonsense mutation of glucokinase gene in late-onset non-insulin-dependent diabetes mellitus. Lancet 340: 1316-1317
7. Shimada F, Makino H, Hashimoto N et al. (1993) Type 2 (non-insulin-dependent) diabetes mellitus associated with a mutation of the glucokinase gene in a Japanese family. Diabetologia 36: 433-437
8. Ballinger SW, Shoffner JM, Hedaya EV et al. (1992) Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion. Nature Genetics 1: 11-15
9. Oka Y, Katagiri H, Yazaki Y, Murase T, Kobayashi T (1993) Mitochondrial gene mutation in islet-cell-antibody-positive patients who were initially non-insulin-dependent diabetics. Lancet 342: 527-528
10. Kadowaki T, Kadowaki H, Mori Y et al. (1994) A subtype of diabetes mellitus associated with the mutation at position 3243 of the mitochondrial gene. N Engl J Med 330: 962-968
11. Thorens B, Sarkar HK, Kaback HR, Lodish HF (1988) Cloning and functional expression in bacteria of a novel glucose transporter present in liver, intestine, kidney and beta-pancreatic islet cells. Cell 55: 281-290
12. Orci L, Unger RH, Ravazzola M et al. (1990) Reduced beta-cell glucose transporter in new onset diabetic BB rats. J Clin Invest 86: 1615-1622
13. Matschinsky FM (1990) Glucokinase as glucose sensor and metabolic signal generator in pancreatic beta-cells and hepatocytes. Diabetes 39: 647-652
14. Meglasson MD, Matschinsky FM (1986) Pancreatic islet glucose metabolism and regulation of insulin secretion. Diabetes Metab Rev 2: 163-214
15. Velho G, Froguel Ph, Clement K et al. (1992) Primary pancreatic beta-cell secretory defect caused by mutations in glucokinase gene in kindreds of maturity onset diabetes of the young. Lancet 340: 444-448
16. Stryer L (1995) Biochemistry. 4th edn. WH Freeman, New York
17. Cederbaum AI, Lieber CS, Beattie DS, Rubin E (1973) Characterization of shuttle mechanisms for the transport of reducing equivalents into mitochondria. Arch Biochem Biophys 158: 763-781
18. Dionishi O, Cittadini A, Gelmuzzi G, Galeotti T, Terranova T (1970) The role of α-glycerophosphate shuttle in the reoxidation of cytosolic NADH in Ehrlich ascites tumor cells. Biochim Biophys Acta 216: 71-79
19. Werner HV, Berry MN (1974) Stimulatory effects of thyroxine administration on reducing-equivalent transfer from substrate to oxygen during hepatic metabolism of sorbitol and glycerol. Eur J Bochem 42: 315-324
20. Sekine N, Cirulli V, Regazzi R et al. (1994) Low lactate dehydrogenase and high mitochondrial glycerol phosphate dehydrogenase in pancreatic b-cells. J Biol Chem 269: 4895-4902
21. MacDonald MJ (1990) Elusive proximal signals of beta-cells for insulin secretion. Diabetes 39: 1461-1466
22. MacDonald MJ (1981) High content of mitochondrial glycerol-3-phosphate dehydrogenase in pancreatic islets and its inhibition by diazoxide. J Biol Chem 256: 8287-8290
23. Giroix MH, Rasschaert J, Bailbe D et al. (1991) Impairment of glycerol phosphate shuttle in islets from rats with diabetes induced by neonatal streptozocin. Diabetes 40: 227-232
24. Rasschaert J, Malaisse-Lagae F, Sener A et al. (1994) Impaired FAD-glycerophosphate dehydrogenase activity in islet and liver homogenates of fa/fa rats. Mol Cell Biochem 135: 137-141
25. Ostenson CG, Abdel-Halim SM, Rasschaert J et al. (1993) Deficient activity of FAD-linked glycerophosphate dehydrogenase in islets of GK rats. Diabetologia 36: 722-726
26. Fernandez-Alvarez J, Conget I, Rasschaert J et al. (1994) Enzymatic, metabolic and secretory patterns in human islets of type 2 (non-insulin-dependent) diabetic patients. Diabetologia 37: 177-181
27. Muller S, Seitz HJ (1994) Cloning of a cDNA for the FAD-linked glycerol-3-phosphate dehydrogenase from rat liver and its regulation by thyroid hormones. Proc Natl Acad Sci USA 91: 10581-10585
28. Brown LJ, MacDonald MJ, Lehn DA, Moran SM (1994) Sequence of rat mitochondrial glycerol-3-phosphate dehydrogenase cDNA. J Biol Chem 269: 14363-14366
29. Lehn DA, Brown LJ, Simonson GD, Moran SM, Mac Donald MJ (1994) The sequence of a human mitochondrial glycerol-3-phosphate dehydrogenase-encoding cDNA. Gene 150: 417-418
30. MacDonald MJ, Moran SM, Simonson GD (1995) The amino acid sequence of the pancreatic islet mitochondrial glycerol phosphate dehydrogenase is not unique and the enzyme is not thyroid or glucose responsive. Arch Biochem Biophys 319: 305-308
31. Ferrer G, Aoki M, Behn P, Nestorowicz A, Riggs A, Permutt MA (1996) Mitochondrial glycerol-3-phosphate dehydrogenase, cloning of an alternative spliced human islet-cell cDNA, tissue distribution, physical mapping, and identification of a polymorphic genetic marker. Diabetes 45: 262-266
32. Matsutani A, Takeuchi Y, Ishihara H, Kuwano S, Oka Y (1996) Molecular cloning of human mitochondrial glycerophosphate dehydrogenase gene: genomic structure, chromosomal localization and existence of a pseudogene. Biochem Biophys Res Commun 223: 481-486
33. Orita M, Suzuki Y, Sekiya T, Hayashi K (1989) Rapid and sensitive detection of point mutation and DNA polymorphisms using the polymerase chain reaction. Genomics 5: 874-879
34. + channel. No evidence for linkage in maturity-onset diabetes of the young or NIDDM. Diabetes 45: 639-641