Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:1.1.1.3 (HSD)
 3,464 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The purpose of the present study was to determine whether peripheral blood lymphocytes (PBL) from primary open angle glaucoma (POAG) patients have reduced 3 alpha-hydroxysteroid dehydrogenase (3 alpha-HSD) activity as was previously found in POAG-derived cultured trabecular meshwork cells. The availability of PBL from both POAG and control patients makes this a useful system for studying the association of decreased 3 alpha-HSD activity with POAG. PBL were isolated from the venous blood of 17 POAG patients and 22 non-glaucoma controls and assayed for 3 alpha-HSD activity with tritiated 5 beta-dihydrocortisol as a substrate. The mean 3 alpha-HSD activity +/- S.E.M., expressed in comparable units of specific activity, of the POAG derived PBL was 13.8 +/- 1.3 U as compared to 32.8 +/- 2.0 U for control cells. This reduction (> 50%) was statistically significant (P < 0.001). Quantitative immunoblot analysis of PBL indicated that the POAG and control cells, despite their difference in 3 alpha-HSD activity, had nearly identical amounts of 3 alpha-HSD protein. The molecular weight of PBL 3 alpha-HSD from both groups of patients was 38,000, the same as previously reported for human liver. The results of this study show an association of decreased PBL 3 alpha-HSD activity and POAG which was not related to antiglaucoma therapy. The reduced levels of 3 alpha-HSD activity in the readily obtainable PBL may serve as a marker for POAG or those at risk for developing the disease.
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PMID:Decreased 3 alpha-hydroxysteroid dehydrogenase activity in peripheral blood lymphocytes from patients with primary open angle glaucoma. 867 11

Patient with primary open angle glaucoma (PAOG), which is known to have a genetic predisposition, and their immediate relatives unaffected with PAOG, may have some changes in dermatoglyphic traits of the digito-palmar complex, since the trabecular meshwork develops at the same time and with the same hereditary base like dermatoglyphs, which have high genetic transmission. The objective of this study is to determine whether differences in quantitative dermatoglyphic traits of the digito-palmar complex exist between patients with glaucoma and the phenotipically healthy population and whether their family members have the same dermatoglyphic changes. The quantitative dermatoglyphic traits in patients suffering from glaucoma, first-degree members of their family and the phenotypically healthy population have been screened in this study. Descriptive statistics, univariate analysis of variance (ANOVA) and post hoc (Tukey HSD) method have been used. The results have shown that there is a link between the quantitative dermatoglyphic traits of the digito-palmar complex in patients affected by glaucoma and a first-degree healthy member of their family, as well as the difference between patients with glaucoma and their first-degree relatives, which may discriminate them from the phenotypically healthy population. The results of the study mostly affirm the existence of genetic predisposition for the development of primary open-angle glaucoma, thus emphasizing the relevance of hereditary factors in the etiopathogenesis of this disease.
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PMID:Analysis of the quantitative dermatoglyphic traits of the digito-palmar complex in patients with primary open angle glaucoma. 1641 75