The Cause of Idiopathic Calcium Stone Disease: Hypercalciuria or Hyperoxaluria?

Robertson, William; Peacock, Munro

doi:10.1159/000181963

Cited by 268 publications

(124 citation statements)

References 32 publications

(45 reference statements)

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“…Low AGT activity, as predicted for individuals homozygous for the minor allele, might be associated with a decrease in the capacity to transaminate (detoxify) glyoxylate to glycine (3). This might lead to mild hyperoxaluria, a frequent finding in idiopathic calcium oxalate stone disease (42,43). Whether the presence of the P11L polymorphism leads to an increased susceptibility to this very common, almost certainly multifactorial condition remains to be seen.…”

Section: Situ (Ie In Human Hepatocytes)mentioning

confidence: 99%

Functional Synergism between the Most Common Polymorphism in Human Alanine:Glyoxylate Aminotransferase and Four of the Most Common Disease-causing Mutations

Lumb

Danpure

2000

Journal of Biological Chemistry

130

135

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The autosomal recessive disorder primary hyperoxaluria type 1 (PH1) is caused by a deficiency of the liver-specific pyridoxal-phosphate-dependent enzyme alanine:glyoxylate aminotransferase (AGT). Numerous mutations and polymorphisms in the gene encoding AGT have been identified, but in only a few cases has the causal relationship between genotype and phenotype actually been demonstrated. In this study, we have determined the effects of the most common naturally occurring amino acid substitutions (both normal polymorphisms and disease-causing mutations) on the properties, especially specific catalytic activity, of purified recombinant AGT. The results presented in this paper show the following: 1) normal human His-tagged AGT can be expressed at high levels in Escherichia coli and purified in a correctly folded, dimerized and catalytically active state; 2) presence of the common P11L polymorphism decreases the specific activity of purified recombinant AGT by a factor of three; 3) AGTs containing four of the most common PH1-specific mutations (G41R, F152I, G170R, and I244T) are all soluble and catalytically active in the absence of the P11L polymorphism, but in its presence all lead to protein destabilization and aggregation into inclusion bodies; 4) naturally occurring and artificial amino acid substitutions that lead to peroxisome-to-mitochondrion AGT mistargeting in mammalian cells also lead to destabilization and aggregation in E. coli; and 5) the PH1-specific G82E mutation abolishes AGT catalytic activity by interfering with cofactor binding, as does the artificial K209R mutation at the putative site of cofactor Shiff base formation. These results are discussed in the light of the high allelic frequency (ϳ20%) of the P11L polymorphism and its importance in determining the phenotypic manifestations of mutations in PH1.

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Section: Situ (Ie In Human Hepatocytes)mentioning

confidence: 99%

Functional Synergism between the Most Common Polymorphism in Human Alanine:Glyoxylate Aminotransferase and Four of the Most Common Disease-causing Mutations

Lumb

Danpure

2000

Journal of Biological Chemistry

130

135

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“…This confirms the findings made by other groups. 15. III It is also significantly greater (P«), (II) than that seen in recurrent calcium stone formers in hospital on defined ISO and 1000 mg calcium intakes (Table I).…”

Section: Discussionmentioning

confidence: 87%

The Variability and Dietary Dependence of Urinary Oxalate Excretion in Recurrent Calcium Stone Formers

Brown

Stratmann²,

Cowley

et al. 1987

Ann Clin Biochem

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“…Group V: Curative control -Received drinking water containing EG and AC ad libitum from 1-15 th day and distilled water 10 ml/kg, orally from [16][17][18][19][20][21][22][23][24][25][26][27][28][29][30] th day. Group VI: Curative treated -Received drinking water containing EG and AC ad libitum from 1-15 th day and ERT 0.5 g/kg, orally from [16][17][18][19][20][21][22][23][24][25][26][27][28][29][30] th day. Group VII: Curative treated -Received drinking water containing EG and AC ad libitum from 1-15 th day and ERT 1.0 g/kg, orally from [16][17][18][19][20][21][22][23][24][25][26][27][28][29][30] th day.…”

Section: Study Protocolmentioning

confidence: 99%

“…Hence, in the present study, EG/AC in drinking water was employed to induce hyperoxaluria in rats. Urinary supersaturation in relation to stone forming constituents, mainly urinary oxalate is important in renal calculi formation 23 , as urinary oxalic acid complexes with calcium and forms insoluble CaOx crystals 24 . Enhanced deposition and urinary excretion of calcium and oxalate in the preventive and curative control group animals indicate that administration of EG/AC induced hyperoxaluria.…”

mentioning

confidence: 99%

Evaluation of <I>Ruellia tuberosa</I> L. for Antiurolithiatic and Antioxidant Activities in Rats

Sailaja¹,

Bharathi²,

Prasad³

2010

Journal of Pharmaceutical Research

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The roots of Ruellia tuberosa L. are recommended for kidney stone disorders in the Indian traditional system of medicine. Ethanolic extract of R. tuberosa roots was evaluated for antiurolithiatic activity against 0.75% v/v ethylene glycol and 2% w/v ammonium chloride induced calcium oxalate urolithiasis and for antioxidant activity against hyperoxaluria induced oxidative stress in male albino rats. Ethylene glycol and ammonium chloride administration increased the deposition of calcium and oxalate in the kidneys, urinary excretion of calcium, oxalate and creatinine in the preventive and curative control rats. In these groups, increased levels of malondialdehyde and depleted levels of antioxidant enzymes, reduced glutathione and catalase were observed. On treatment with the extract, a significant reduction in the deposition of calcium, oxalate and also urinary excretion of calcium, oxalate and creatinine was observed, indicating its antiurolithiatic effect. The extract administration also decreased the extent of lipid peroxidation and enhanced the levels of antioxidant enzymes in the kidneys of urolithic rats, reflecting its antioxidant efficacy against hyperoxaluria induced renal oxidative stress. Results of the present study support the traditional claim of R. tuberosa roots in treating renal calculi.

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The Cause of Idiopathic Calcium Stone Disease: Hypercalciuria or Hyperoxaluria?

Cited by 268 publications

References 32 publications

Functional Synergism between the Most Common Polymorphism in Human Alanine:Glyoxylate Aminotransferase and Four of the Most Common Disease-causing Mutations

Functional Synergism between the Most Common Polymorphism in Human Alanine:Glyoxylate Aminotransferase and Four of the Most Common Disease-causing Mutations

The Variability and Dietary Dependence of Urinary Oxalate Excretion in Recurrent Calcium Stone Formers

Evaluation of <I>Ruellia tuberosa</I> L. for Antiurolithiatic and Antioxidant Activities in Rats

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