RESUMO
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.
Assuntos
Insuficiência Cardíaca/genética , Hipertensão/genética , Peptidil Dipeptidase A/genética , Polimorfismo Genético , Sistema Renina-Angiotensina/efeitos dos fármacos , Idoso , Substituição de Aminoácidos , Inibidores da Enzima Conversora de Angiotensina/farmacologia , Inibidores da Enzima Conversora de Angiotensina/uso terapêutico , Anti-Hipertensivos/farmacologia , Anti-Hipertensivos/uso terapêutico , Ácido Aspártico/genética , Feminino , Genótipo , Insuficiência Cardíaca/tratamento farmacológico , Insuficiência Cardíaca/mortalidade , Insuficiência Cardíaca/patologia , Humanos , Hipertensão/tratamento farmacológico , Hipertensão/mortalidade , Hipertensão/patologia , Isoleucina/genética , Masculino , Pessoa de Meia-Idade , Miocárdio/patologia , Reação em Cadeia da Polimerase , Valor Preditivo dos Testes , Prognóstico , Sistema Renina-Angiotensina/genética , Análise de SobrevidaRESUMO
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 15.4% alleles and mutation 84GG was not found at all. The other mutations were: P178S, W184R and Rec Nci I (in compounds with N370S) in the patients with nonneuronopathic form of Gaucher disease, and the genotypes G377S/c 999G --> A and D409H/R120W/G202R were detected in patients with chronic neuronopathic form of Gaucher disease. The data analysis of the genotype and disease progression in the patients allows confirming the known genotype-phenotype correlation.
Assuntos
Doença de Gaucher/enzimologia , Doença de Gaucher/genética , Frequência do Gene , Glucosilceramidase/genética , Mutação , Alelos , Doença Crônica , Testes Genéticos , Genótipo , Humanos , UcrâniaRESUMO
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.
Assuntos
Erros de Diagnóstico/prevenção & controle , Doença de Gaucher/diagnóstico , Hexosaminidases/metabolismo , beta-Glucosidase/metabolismo , Adolescente , Adulto , Biomarcadores/análise , Criança , Pré-Escolar , Feminino , Doença de Gaucher/sangue , Doença de Gaucher/enzimologia , Humanos , Leucócitos/enzimologia , Masculino , Pessoa de Meia-Idade , Sensibilidade e Especificidade , Espectrometria de FluorescênciaRESUMO
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. We suggest the new modification of arylsulfatase A activity detection method which allows to identify the arylsulfatase A pseudodeficiency without molecular genetic methods.
Assuntos
Arilsulfatases/deficiência , Leucodistrofia Metacromática/diagnóstico , Adolescente , Adulto , Arilsulfatases/sangue , Arilsulfatases/genética , Criança , Pré-Escolar , Diagnóstico Diferencial , Feminino , Haplótipos , Humanos , Lactente , Leucócitos/enzimologia , Leucodistrofia Metacromática/sangue , Leucodistrofia Metacromática/genética , Masculino , Pessoa de Meia-IdadeRESUMO
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. The ARSA activity in the patients was 2-26 nmol/h/mg protein (the normal activity has been established in our laboratory as 111.9 +/- 7.1 nmol/h/mg protein). No correlation between enzyme activity and a clinical course of disease was revealed. The IVS2 + 1 mutation was found at 2 of 20 alleles (in a patient with late infantile form) and the P426L mutation was found at 2 of 20 alleles (in two patients with juvenile form). Thus, the total frequency of these two major mutations in the ARSA gene is 20% in Ukrainian MLD patients.
