[I/D angiotensin-converting enzyme gene polymorphism: structural changes in the myocardium and predictive value in chronic heart failure].

The article presents data regarding links of I/D angiotensin-converting enzyme (ACE) gene polymorphism and structural changes in the myocardium and predictive value in chronic heart failure (CHF). We did not find association of I/D ACE gene polymorphism and structural changes in the myocardium and predictive value in patients with CHF, receiving treatment inhibitor ACE.

[Detection of the frequencies of GBA gene major mutations in patients with Gaucher disease in Ukraine].

The molecular diagnostics of 27 from 26 Ukrainian families has been performed. The common mutations in GBA gene (N370S, L444P and 84GG) accounted for up to 58% of all cases: mutation N370S was detected in 42.3% alleles, mutation L444P was observed in 15.

[The possibility of increasing the precision of biochemical diagnostics of Gaucher disease].

Estimation of chitotriosidase activity is proposed for final diagnostics of Gaucher disease. Using this method the diagnosis has not been confirmed in one patient of 25 ones with this preliminary diagnosis. The problems of complex diagnostics of Gaucher disease are discussed.

[Differentiation between arylsulfatase A deficiency and pseudo-deficiency].

Metachromatic leukodystrophy (MLD)--lysosomal storage disease caused arylsulfatase A (ARSA) deficiency. Biochemical diagnostic of MLD is complicated by arylsulfatase A pseudodeficiency. There is possibility of mistake in MLD diagnoses in case of pseudodeficiency ARSA and non-MLD neurological disease combination.

[Molecular screening of the major mutations in the ARSA gene in patients with metachromatic leukodystrophy].

Metachromatic leukodystrophy (MLD) is an inherited storage disease caused by deficiency of arylsulfatase A (ARSA). Molecular analysis of the major mutations in the ARSA gene was performed in 10 Ukrainian patients (from 9 families) with MLD. According to the age of onset, late infantile MLD was identified in 3 patients, juvenile MLD in 5 patients, and adult MLD in 2 patients (sibs), respectively.