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1.
Mymensingh Med J ; 32(2): 520-526, 2023 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-37002766

RESUMO

Hypertrophic cardiomyopathy (HCM) is the most prevalent genetic hereditary cardiomyopathy characterized by sudden cardiac death. Mutations in the MYBPC3 gene are often the most prevalent genetic abnormality in HCM with a prevalence ranging from 20.0 to 42.0%. The mutation spectrum is available for different countries, but such studies are lacking in the Asian population including Bangladeshi patients. A cross-sectional descriptive study was conducted for mutation analysis of the whole MYBPC3 gene on a cohort of 75 HCM Bengali Bangladeshi probands through Next Generation Sequencing at the Genetic Research Lab of Bangabandhu Sheikh Mujib Medical University from 2016 to 2019. The structural and functional impact of the mutations was further analyzed by in silico process. We analyzed the data and found 103 variants in 102 locations in the MYBPC3 gene. Variants were identified in both the coding region and the non-coding region. We found one possibly novel variant in the MYBPC3 gene. The findings of this research will help to develop a genetic database of HCM which will help in the early diagnosis and proper management of HCM patients in Bangladesh. One pathogenic splice donor variant (47356592 C >T) was found in the intronic region. Among the variants in the coding region, one missense mutation was pathogenic (NP₋000247.2: p.Asp770Asn) which was found in seven patients and another one is of conflicting interpretations of pathogenicity (NP₋000247.2: p.Ser217Gly) which was found in two patients. We have identified one in-frame deletion (NP₋000247.2: p.Ala433del) that is possible a novel variant responsible for the development of HCM.


Assuntos
Cardiomiopatia Hipertrófica , Adulto , Humanos , Cardiomiopatia Hipertrófica/genética , Proteínas de Transporte/genética , Estudos Transversais , Mutação
2.
J Appl Microbiol ; 2018 Aug 26.
Artigo em Inglês | MEDLINE | ID: mdl-30146698

RESUMO

AIMS: The aim of this study was to evaluate the antagonistic activity of halotolerant bacteria against rice brown stripe pathogen Acidovorax oryzae. METHODS AND RESULTS: Fifteen of 136 isolates of halotolerant bacteria exhibited strong in vitro and in vivo antagonistic activity against both strains of A. oryzae. The 15 antagonistic isolates were identified as 'operational group Bacillus amyloliquefaciens' based on physiological and biochemical features, fatty acid profiles as well as sequence analysis of 16S rRNA, gyrA and rpoB genes. Furthermore, this result indicated that the most effective antagonistic isolates K5-3 and PPB6 could produce siderophore in iron-limiting medium, and four kinds of secondary metabolites based on MALDI-TOF analysis. In addition, the culture filtrates of isolates K5-3 and PPB6 caused the damage of cell membrane evidenced by the TEM images, and resulted in 73-80% reduction in cell numbers, 55-65% reduction in biofilm formation, and 42-50% reduction in swimming ability of both strains of A. oryzae. CONCLUSIONS: These isolates in particular K5-3 and PPB6 of halotolerant bacteria markedly inhibited the growth of A. oryzae. SIGNIFICANCE AND IMPACT OF THE STUDY: To our knowledge, this is the first report on biological control of halotolerant bacteria against bacterial brown stripe of rice.

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