Bioprospecting potential of fast growing endophytic bacteria from leaves of mangrove and salt-marsh plant species

397-402In the present study, bioprospecting aspects of endophytic bacteria, isolated from leaves of 5 mangroves and 2 salt-marsh plant species, were explored. In total, 104 bacterial isolates were isolated from the leaf samples of mangrove plants of Pichavaram, Tamil Nadu. Thirty six fast growing isolates were selected and screened for biological activities. Of 36 isolates, 28 (77%) showed antimicrobial activity, and 94.4% of isolates exhibited pectinase, 58.3% protease and 52.7% inulinase and invertase activities. Plant growth promoting activity, such as, ammonia and acetoin production, was shown by 22 (61.1%) and 25 (69.4%) endophyte isolates, respectively; whereas 26 isolates (72.2%) showed nitrogen fixing activity. Six isolates (16.6%) showed phosphate solubilization activity and 7 isolates (19.4%) produced indole acetic acid (IAA). Further, malachite green and phenol degrading activities were observed in 12 (33.3%) and 20 (55.5%) endophytic bacterial isolates, respectively. More than 20 endophytic bacteria were sensitive to antibiotics like streptomycin and trimethoprim, while 31 isolates (86.1%) were resistant to vancomycin and bacitracin. Thirty four (94.4%) and 31 (86.6%) endophytic isolates exhibited growth onto a medium containing upto 7.5 and 10% NaCl concentrations, respectively. The present study has proved that the mangroves are the sources of endophytic bacteria with bioprospecting potential, which deserves further studies

Sinus Venosus Atrial Septal Defect with Hemianomalous Right Upper Pulmonary Venous Drainage in Holt-Oram Syndrome

Holt-Oram syndrome (HOS), an autosomal dominant genetic condition, is characterized by congenital heart defects, upper limb abnormalities and heart block. HOS is associated with TBX5 mutation. The condition is often associated with ostium secundum type of ASD. We present here the case of a 2-year-old child with sinus venosus atrial septal defect with hemianomalous right upper pulmonary venous drainage in HOS

Comprehensive genomic analysis identifies pathogenic variants in maturity-onset diabetes of the young (MODY) patients in South India

Abstract Background Maturity-onset diabetes of the young (MODY) is an early-onset, autosomal dominant form of non-insulin dependent diabetes. Genetic diagnosis of MODY can transform patient management. Earlier data on the genetic predisposition to MODY have come primarily from familial studies in populations of European origin. Methods In this study, we carried out a comprehensive genomic analysis of 289 individuals from India that included 152 clinically diagnosed MODY cases to identify variants in known MODY genes. Further, we have analyzed exome data to identify putative MODY relevant variants in genes previously not implicated in MODY. Functional validation of MODY relevant variants was also performed. Results We found MODY 3 (HNF1A; 7.2%) to be most frequently mutated followed by MODY 12 (ABCC8; 3.3%). They together account for ~ 11% of the cases. In addition to known MODY genes, we report the identification of variants in RFX6, WFS1, AKT2, NKX6–1 that may contribute to development of MODY. Functional assessment of the NKX6–1 variants showed that they are functionally impaired. Conclusions Our findings showed HNF1A and ABCC8 to be the most frequently mutated MODY genes in south India. Further we provide evidence for additional MODY relevant genes, such as NKX6–1, and these require further validation