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Results for “DEFICIENCY DISEASES”

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PubMed1989

Detection and characteristics of DNA polymerase activity in serum from patients with malignant, viral, or B12-deficiency disease.

DNA polymerase activity was demonstrated in sera from patients with diseases affecting DNA metabolism in different ways, i.e. malignant, viral and vitamin B12-deficiency disease. Using the current procedure, such activity was only detected in sera with pathological levels of thymidine kinase, i.e. no reference level of DNA polymerase activity in healthy individuals could be established. The activity detected for all three types of disease was similar to that of proliferation-associated DNA polymerase alpha, both with respect to sensitivity to different chemical inhibitors and to inhibition by monoclonal antibody. The levels of activity of DNA polymerase and thymidine kinase showed a wide variation and were not significantly correlated when all DNA polymerase-positive sera were included in the analysis. The variation in the ratio of polymerase to kinase activity within a given disease was smaller and the distributions of the enzyme ratios induced by the three types of disease differed significantly. Considering that DNA polymerase activity can be quantitated directly in crude sera, and that such analyses seems to give biological and clinical information, the development of an assay with improved sensitivity for extensive studies is justified.

Biomarkers↗
PubMed1995

The molecular basis of canavan (aspartoacylase deficiency) disease in European non-Jewish patients.

Canavan disease is an infantile neurodegenerative disease that is due to aspartoacylase deficiency. The disease has been reported mainly in Ashkenazi Jews but also occurs in other ethnic groups. Determination of enzymatic activity for carrier detection and prenatal diagnosis is considered unreliable. In the present study, nine mutations were found in the aspartoacylase gene of 19 non-Jewish patients. These included four point mutations (A305E [39.5% of the mutated alleles], C218X [15.8%], F295S [2.6%], and G274R [5.3%]); four deletion mutations (827delGT [5.3%], 870del4 [2.6%], 566del7 [2.6%], and 527del6 [2.6%]); and one exon skip (527del108 [5.3%]). The A305E mutation is pan-European and probably the most ancient mutation, identified in patients of Greek, Polish, Danish, French, Spanish, Italian, and British origin. In contrast, the G274R and 527del108 mutations were found only in patients of Turkish origin, and the C218X mutation was identified only in patients of Gypsy origin. Homozygosity for the A305E mutation was identified in patients with both the severe and the mild forms of Canavan disease. Mutations were identified in 31 of the 38 alleles, resulting in an overall detection rate of 81.6%. All nine mutations identified in non-Jewish patients reside in exons 4-6 of the aspartoacylase gene. The results would enable accurate genetic counseling in the families of 13 (68.4%) of 19 patients, in whom two mutations were identified in the aspartoacylase cDNA.

Alleles↗
PubMedDate not supplied

[Prevention of iodine-deficient diseases].

The Interregional center of public health and development assisted by Sechenov Moscow Medical Academy undertook, 1999-2000, a study of the standard of knowledge, attitude and conduct of consumers in respect to the use of iodinated salt (IS) in the prevention of iodine-deficient diseases (IDD). It was demonstrated that, on the average per one district, 19% of city respondents and 13% of rural respondents used IS only. About 31% of city respondents used IS when it was available at the next-door shop, i.e. from time to time. This figure reached 48% in Irkutsk and Orenburg Regions. The share of those who used IS sometimes in rural regions made an average of 20.7%. 67.2% of those who believe that IDD can be prevented think that ID can also be prevented. Less than 5% of them say ID cannot be regarded as a reliable tool in the prevention of IDD.

Adolescent↗