Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018099 (gout)
 5,192 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 25-year-old white man with gout and nephropathy and with a previous reaction to allopurinol was given a trial dose of oxypurinol. He developed malaise, a generalized erythematous reaction with edema, pruritus, and emesis; this was clinically identical to the reaction he experienced with allopurinol. When the patient's lymphocytes were exposed in vitro to oxypurinol and allopurinol, increased DNA synthesis was observed, suggesting an immunologic basis for the reaction. This patient indicates that clinical cross reactivity to allopurinol and oxypurinol does occur and may be of an immunologic basis. There is a need for additional xanthine oxidase inhibitors for such patients.
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PMID:Allergic reaction to allopurinol with cross-reactivity to oxypurinol. 13 55

Some of the drugs, which are used in therapy of gout were tested with respect to their influence on semi-conservative DNA-synthesis and DNA-repair in vitro, using different cell systems. The agents (Benzbromarone, Allopurinol, Thiopurinol) were investigated in concentrations similar to blood-levels in normal therapy. The cells were irradiated with ultraviolet or ionizing radiation in order to damage their DNA and DNA-repair (unscheduled DNA-synthesis) was estimated by measuring the incorporation of radioactively labeled thymidine into acid insoluble material under appropriate conditions. The substances showed different effects on DNA-synthesis as well as on DNA-repair, even then, when their supposed influence on enzymes of nucleotide metabolism, was similar.
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PMID:[The effect of uricosuric and uricostatic drugs on DNA metabolism]. 100 59

Five independent mutations in the hypoxanthine guanine phosphoribosyltransferase (HPRT) gene were identified in a partially HPRT deficient patient with gout and in four Lesch-Nyhan patients. Using the polymerase chain reaction (PCR) technique coupled with direct sequencing, the nucleotide sequences of the entire HPRT coding region amplified from the cDNA and also of each exon amplified form the genomic DNA were analyzed. Three independent point mutations in the coding region were detected in the partially HPRT deficient patient (Case 1) and in two Lesch-Nyhan patients (Case 2 and 3), resulting in single amino acid substitutions. The family study of Case 3, utilizing a PvuII restriction site created in the mutant gene, indicated that the mother was a heterozygote, and a sister and a fetal brother had inherited the normal HPRT gene from the mother. In two other mutants causing Lesch-Nyhan syndrome, a portion of the HPRT gene was deleted, and RNA splicing was missing in both mutants. A 4-bp deletion at the 5' end of exon 4 resulted in formation of three different types of abnormal mRNA (Case 4). The other mutant (Case 5) produced abnormal mRNA including 26 bp of intron 8 instead of the deleted 58 bp at the 5' end of exon 9, because of a 74-bp deletion from intron 8 to exon 9.
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PMID:Molecular analysis of five independent Japanese mutant genes responsible for hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiency. 148 94

Disorders in the DNA repair in the human lymphocytes isolated from patients with Marfan's syndrome, homocystinuria, schizophrenia, and gout have been found. In this investigation criteria used estimating the DNA repair were the following: host cell reactivation (vaccinia virus reactivation) and its mutagenesis, DNA repair synthesis, resynthesis of DNA breakages. Lymphoblastoid interferon was used as a modulator of DNA repair activity. Pretreatment of normal human cells with interferon stimulated all steps of DNA repair. In human cells with disorders, interferon stimulated DNA repair (XP) in some cases but failed in others.
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PMID:DNA repair and human pathology. 209 26

DNA repair was explored in continuous cells withdrawn from gout patients. The data obtained were compared to those on primary cells (lymphocytes) from the same patients. Two continuous lines of fibroblasts obtained from the biopsy material of patients suffering from gout were examined for stability of reparation defects on long cell passage. The studies were made with 4 to 12 passages of patients' fibroblasts. The use of criteria reflecting certain stages of DNA repair (reparative synthesis of DNA, formation of induced DNA ruptures and their resynthesis during cell postincubation, reactivation and induced mutagenesis of measles vaccine virus in patients' cells) allowed confirmation of repair defect stability in gout patients' cells on their long passage. Based on the data on preservation of the repair defect on cell passage it is concluded that gout patients demonstrate the genetically determined impairment of the synthesis of DNA repair enzymes participating in the recovery of DNA impairments induced by UV radiation or UV mimetics.
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PMID:[The preservation of a DNA repair disorder in continuous-line fibroblasts obtained from gout patients]. 212 Jul 86

The change in genomic DNA responsible for HPRT deficiency has been determined in a patient with urate overproduction and gout. In erythrocyte cell lysates, this patient had approximately 10% of normal HPRT enzyme activity and 26% of immunoidentical HPRT protein. Cultured lymphoblasts derived from this patient were used to extract mRNA. This was reverse transcribed to cDNA, which was then amplified using the polymerase chain reaction. The resulting DNA was cloned and the nucleotide sequence determined. In addition a portion of the sequence was derived from cloned double-stranded cDNA prepared by conventional first and second strand synthesis. A single nucleotide base change (a C----T transition) was detected, which predicts an amino acid substitution of isoleucine for threonine at amino acid 168 of the HPRT protein. The nucleotide substitution creates a BamHI site, confirming a restriction fragment length polymorphism previously reported in this patient.
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PMID:Identification of a single nucleotide substitution in the coding sequence of in vitro amplified cDNA from a patient with partial HPRT deficiency (HPRTBRISBANE). 224 54

Nutritional experiments with formula diets show, that DNA taken orally raises the serum uric acid concentration only half as much as does the same quantity of RNA. In evaluating the suitability of foods used in the diet of patients with gout, however, food is only judged by its total purine-N content. In commercially available raw food the total purine content was determined enzymatically as uric acid. In the same samples the content of RNA, DNA, nucleotides, nucleosides and bases was determined. Eight healthy persons took part in a nutritional experiment, which began with a diet low in purines. During the first phase of the experiment, the participants ate 150 g veal-liver in addition to the low purine diet; in the second phase, they ate 80 g pork-spleen. In both additional foods, subjects took in an equal amount of total purines, determined as uric acid, but RNA dominated in veal-liver, DNA in pork-spleen. There was no statistically significant difference in the effect on serum uric acid concentration and urinary uric acid excretion between eating liver and spleen, however.
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PMID:[Effect of DNA and RNA in foods on serum uric acid concentration in the human]. 244 37

Antibodies to native (n) and denatured (d) DNA were studied in 70 patients with primary gout and 40 experimental animals with hyperuricemia. Titres of anti-nDNA in patients with gout considerably exceeded similar indices in donors and were in inverse relationship with the severity of arthritis and markedness of morphological manifestations of renal affection. Anti-nDNA directly correlated with the count of B-lymphocytes in the blood and indirectly with other immunological indices. Anti-dDNA directly correlated with the count of B-cells, reaction of lymphocytes to Kon-A and the titres of antirenal antibodies but were in inverse relationship with the content of uric acid and IgG in the blood serum. Long-term feeding of rats with yeast autolysate with ammonium molybdate and inosine was accompanied by the development of hyperuricemia, an abrupt drop in the level of DNA in the plasma and by a rise in the level of anti-DNA antibodies.
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PMID:[Anti-deoxyribonucleic acid antibodies in podagra]. 267 95

As many as 8 families suffering from gout were examined with the use of four tests for the repair of DNA damages. The criteria applied for the assessment of the reparative activity made it possible to identify in total or in different combinations the inhibition of the repair in the lymphocytes of all the probands examined. The use of 1-3 procedures revealed the repair defects in all the families, namely in the lymphocytes of the probands' relatives. Based on this fact an attempt has been made to identify possible carriership of the "pathological" genes in the proband's relatives, which in future will make it possible to develop approaches to the identification of the genetic markers of the disease as well as to the disease prevention.
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PMID:[Analysis of familial cases of gout using tests for DNA repair]. 279 16

The combination of denaturing gradient gel electrophoresis (DGGE) and in vitro DNA amplification has allowed us to (1) localize a DNA mutation to a given 100-bp region of the human genome and (2) rapidly sequence the DNA without cloning. DGGE showed that a mutation had occurred, but the technique revealed little about the nature or position of that mutation. The region of the genome containing the mutation was amplified by the polymerase chain-reaction technique, providing DNA of sufficient quality and quantity for direct sequencing. Amplification was performed with a 32P end-labeled primer that allowed direct Maxam-Gilbert sequencing of the amplified product without cloning. HPRTMunich was found to contain a single-base-pair substitution, a C-to-A transversion at base-pair position 397. We report the generation of a 169-bp, wild-type DNA probe that encompasses most of exon 3 of the human hypoxanthine guanine phosphoribosyltransferase (HPRT) gene and contains a low-temperature melting domain of approximately 100 bp. HPRTMunich, an HPRT mutant isolated from a patient with gout, has a single amino acid substitution; the corresponding DNA sequence alteration must lie within the low-temperature melting domain of exon 3. We report the separation of HPRTMunich from the wild-type sequence using DGGE. In addition to base-pair substitutions, DGGE is also sensitive to the methylation state of the molecule. The cDNA for HPRT was cloned into a vector and propagated in Escherichia coli dam+ and dam- strains; thus, methylated and unmethylated HPRT cDNA was obtained.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Resolution of a missense mutant in human genomic DNA by denaturing gradient gel electrophoresis and direct sequencing using in vitro DNA amplification: HPRT Munich. 335 23


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