Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:3.4.15.1 (ACE)
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Using enzyme characters determined by starch gel electrophoresis, the authors have applied the method of Numerical Taxonomy to the genus Leishmania Ross, 1903. Eight isoenzymes (PGI, ME, PGM, GOT, G-6-PDH, 6-PGDH, MDH and IDH) of 146 Old World strains are examined. 35 electromorphs, corresponding to equivalent number of isoenzymes, are identified by this method, and then grouped into 14 zymodemes. These zymodemes were used as Operational Taxonomy Units (OTU) and pairs were compared, using Jaccard's index of similarity. A matrix of association was constructed using these indices and it forms the basis for the taxonomic scheme elaborated. The final relationships are exhibited in the agglomerative dendrogram, constructed using complete linkage. The separation into phylons is confirmed by correspondence analysis. It is concluded that the original lines fall into five groups corresponding to the complexes Leishmania donovani, Leishmania tropica, Leishmania major, Leishmania aethiopica and cf. Leishmania tarentolae. The phylons as recognised by Numerical Taxonomy, can be equated with the taxa of traditional systematics. The phyletic significance of the individualized phylons is then provided by a genetic approach. Thus, it is possible to compute the genetic distances of Nei with allozyme frequency values of 0,0.5 and 1. The new dendrogram is similar to the previous one: Leishmania major constitutes an homogeneous taxon, long isolated from the others. Leishmania donovani and Leishmania tropica have retained a nonnegligible amount of genetic similarity, attesting both a common origin and a more recent evolutionary divergence.
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PMID:[The application of a numerical method to the taxonomy of the genus Leishmania Ross, 1903,--The recognition of 146 original lines in the Old World. Use of allozymic characters. Epidemiological and phyletic significance (author's transl)]. 733 75

The renin-angiotensin system (RAS) is now well established as an important determinant in the progression of renal damage. The level of plasma angiotensin converting enzyme (ACE) is genetically determined and this gene effect is associated with insertion (I)/deletion (D) polymorphism in intron 16 of ACE gene. It has been reported that DD genotype of ACE gene is associated with a poor outcome in patients with IgA nephropathy and trend to develop renal damage in diabetic mellitus. In this study, the correlation between ACE gene I/D polymorphism and the clinical features of lupus nephritis (LN) was determined in 144 LN patients and 150 normal controls by PCR. 72 LN patients were followed up for more than two years. It was found that the DD genotype was significantly higher in LN patients than in normal controls (P < 0.01), while the II genotype was much less in LN (P < 0.01). There was no significant difference in DI genotype frequency between LN patients and normal control (P > 0.05). Patients with hematuria, type IV LN, activation of LN, crescentic formation and severe tubulo-interstitial lesions showed an excess of the DI genotype. However, the DD genotype was not associated with the clinical and pathological characteristics of LN. To assess whether ACE genotype influence the progression of LN, we compared the clinical and pathological findings in patients of different genotype subgroups. There was no significant difference in blood pressure, proteinuria, serum creatinine, active index of disease and crescentic formation at presentation among these groups. However, as patients were divided into two groups according to their rate of decline in renal function. We found that patients with progressive renal function damage had a higher frequency of DI genotype than those with stable renal function (P < 0.01). It is conclude that patients with LN the DI genotype was associated with the severity and the poor prognosis in patients with LN.
Zhonghua Nei Ke Za Zhi 1997 Jul
PMID:[Angiotensin-converting enzyme gene polymorphism and the clinical pathological features and progression in lupus nephritis]. 1043 47

Aldosterone biosynthesis in kidney has been proved by means of kidney perfusion in vitro, high performance liquid chromatography, radioimmunoassay and TR-PCR, indicating that aldosterone biosynthesis is possible in tissues other than adrenal. Bilateral nephrectomy was carried out in male Wistar rats and the plasma renin activity would disappear after 30 hours. However, RT-PCR showed that the vasculature in the nephrectomized rats was still able to express renin mRNA. It means that the vasculature is different from the heart which depends on taking up renin from the circulation, while the vasculature takes renin produced locally in its own tissue to initiate the renin-angiotensin-aldosterone system. Perindopril, an angiotensin converting enzyme inhibitor (ACEI), inhibits not only the production of angiotensin II, but also the synthesis of aldosterone in the vasculature. ACEI reversion of vascular remodeling is probably related with its inhibition of aldosterone synthesis in the vasculature.
Zhonghua Nei Ke Za Zhi 1997 Sep
PMID:[An experimental study on tissue renin-angiotensin-aldosterone system]. 1043 67

Knowledge of population ancestry from genetic markers is essential, for example, to understand the history of human migration and to carry out admixture and association studies. Here we assess the genome ancestry of the Azorean population through analysis of six Alu polymorphic sites (TPA-25, ACE, APO, B65, PV92, and D1) in 65 Azoreans and 30 Portuguese unrelated blood donors and compare data for the Y-chromosome and mtDNA. Allele frequencies were calculated by direct counting. Statistical analysis was performed using Arlequin 2.0. Nei's genetic distance was calculated with DISPAN software, and trees were constructed by neighbor joining (NJ) using PHYLIP 3.63. The results show that all Alu insertions were polymorphic. APO is the closest to fixation. The less frequent insertions are PV92 and D1 in the Azores and Portugal, respectively. ACE and TPA-25 show the highest values of heterozygosity in both populations. Allele frequencies are very similar to those obtained in European populations. These results are validated by the Y-chromosome and mtDNA data, where the majority of the maternal and paternal lineages are European. Overall, these data are reflected in the phylogenetic tree, in which the Azoreans and the Portuguese branch with Catalans, Andalusians, Moroccans, and Algerians. We conclude that the population of the Azores shows no significant genetic differences from that of mainland Portugal and that it is an outbred population. Moreover, the data validate the use of Alu insertion polymorphisms to assess the origin and history of human populations.
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PMID:Assessment of Azorean ancestry by Alu insertion polymorphisms. 1649 35