Differential expression of the two human arginase genes in hyperargininemia. Enzymatic, pathologic, and molecular analysis
Article Abstract:
In humans and animals there are two different isozymes AI and AII, which assist in the breakdown of the amino acid arginine. The isozymes function to bring about the same biologic chemical reaction but have different characteristics. AI is found in the liver and red blood cells and is responsible for the production of urea. Patients with an illness called hyperargininemia are lacking AI, but have high levels of arginine and urea in their blood. Little is known about AII which is found in small amounts in organs such as the kidney. An autopsy of a patient who had hyperargininemia revealed that AI was absent from the tissues where as AII was encountered in high amounts. There was bi genetic change in the area of the genes which controls production of AI. This suggests that the same genetic information exists in both normal and hyperargininemic patients and that the increased amounts of AII may be responsible for the increased levels of urea seen in patients. There may be two separate locations on the gene, one for AI and one for AII, controlling arginine production. New treatment methods could be developed for humans with this illness.
Publication Name: Journal of Clinical Investigation
Subject: Health care industry
ISSN: 0021-9738
Year: 1989
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Selective defect in myeloid cell lactoferrin gene expression in neutrophil specific granule deficiency
Article Abstract:
Patients afflicted with a specific disorder in the granule-containing white blood cells (neutrophils) were studied. The authors examined the genetic material (messenger RNA) that is responsible for the production of two proteins which form the granules of the neutrophils. One of these proteins is also found in the membrane lining the nose. In patients with this disorder it was found that messenger RNA for one neutrophil granule was lacking, but that the cells of the nose contained a normal concentration. In this disorder the deficiency in the granules of these white blood cells seems to be due to a common defect in the coding of granule information.
Publication Name: Journal of Clinical Investigation
Subject: Health care industry
ISSN: 0021-9738
Year: 1989
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Rearrangements and point mutations of P450c21 genes are distinguished by five restriction endonuclease haplotypes identified by a new probing strategy in 57 families with congenital adrenal hyperplasia
Article Abstract:
Congenital overgrowth of the adrenal gland, congenital adrenal hyperplasia, is caused by a known irregularity of a gene on chromosome 6. The investigators in this study have developed a method that allows them to explore this location on chromosome 6 for the irregularity. The study examines genetic material from 68 afflicted patients and 165 unaffected family members. In this sample 116 chromosomes were found to show the congenital adrenal hyperplasia irregularity. Most of these could be sorted into one of five gene types. The study shows promise in identifying these types.
Publication Name: Journal of Clinical Investigation
Subject: Health care industry
ISSN: 0021-9738
Year: 1989
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