Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:3.1.3.9 (glucose-6-phosphatase)
 3,081 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Type 1a glycogen storage disease (GSD) is an autosomal recessive metabolic disorder caused by a deficiency in glucose-6-phosphatase (G6Pase). Polymerase chain reaction (PCR) and nucleotide sequence analysis were used to identify the location and nature of mutations at the G6Pase locus in two siblings affected with type 1a GSD. Both patients are compound heterozygotes with two different single nucleotide substitutions in the two G6Pase alleles. A guanine to adenine transition was identified at base position 327 in the exon 2, converting an arginine to a histidine at codon 83. The second substitution was a thymine to adenine transversion at base position 1101 in the exon 5, converting an isoleucine to an asparagine at codon 341. Family study reveals that both parents are heterozygous carriers: the father with a mutant G6Pase allele at exon 2, the mother with another mutant G6Pase allele at exon 5. This is the first family study in Taiwan on type 1a GSD identified by molecular analysis. The mutations identified herein are novel substitutions in the G6Pase gene. In addition, an adenine to guanine substitution was observed at base position 653 in the exon 5 of G6Pase gene in both sibling patients and their parents, as well as in 15 normal Chinese subjects and three normal Caucasian subjects.
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PMID:Genetic analysis of the glucose-6-phosphatase mutation of type 1a glycogen storage disease in a Chinese family. 900

The aim of the study was to evaluate the hypoglycemic effect of low, medium, and high doses of resistant starch type 2(RS2;100, 150, and 200g/kg) for 28days and explore its potential mechanism of this effect in type 2 diabetic rats treated with high-glucose-fat diet and low-dose streptozotocin(STZ). RS2 treatment induced better regulation of lipid in plasma and liver, fructosamine, oral glucose tolerance test, insulin, glucose metabolism and pancreatic damage in diabetic rats. The best hypoglycemic activity was observed after the medium-dose RS2 treatment. Western blot and real-time Polymerase Chain Reaction (RT-PCR)results revealed that phosphoenolpyruvate carboxykinase and glucose-6-phosphatase are involved in glyconeogenesis in the liver, and pancreatic duodenum homeobox 1 controls gluconeogenesis balance by regulating the expression levels of glucose kinase and glucose transport protein 2 in the liver and pancreas. Furthermore, the expression levels of insulin receptor substrate 1 and insulin receptor substrate 2 were enhanced in the pancreas. Results suggested that decreases in the blood glucose levels of diabetic rats fed with RS are regulated through the alteration of the expression levels of the genes related to glucose metabolism and amelioration of pancreatic dysfunction.
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PMID:Resistant starch produces antidiabetic effects by enhancing glucose metabolism and ameliorating pancreatic dysfunction in type 2 diabetic rats. 2919 22