A rare optineurin mutation in an Indian family with coexistence of JOAG and PCG

Purpose: This study focused on the genetic screening of Myocilin (MYOC), Cytochrome P450 family 1 subfamily B member 1 (CYP1B1), Optineurin (OPTN), and SIX homeobox 6 (SIX6) genes in a family with coexistence of primary congenital glaucoma (PCG) and juvenile open?angle glaucoma (JOAG). Methods: Sanger sequencing was used to examine the coding region of all four genes. Six different online available algorithms were used for the pathogenicity prediction of missense variant. Structural analysis was done using Garnier–Osguthorpe–Robson (GOR), PyMol, ChimeraX, and Molecular Dynamic (MD) Simulations (using Graphics Processing Unit (GPU)?enabled Desmond module of Schrödinger). Results: There were a total of three sequence variants within the family. All seven algorithms determined that a single mutation, G538E, in the OPTN gene is pathogenic. The loops connecting the strands became more flexible, as predicted structurally and functionally by pathogenic mutations. Mutations create perturbations and conformational rearrangements in proteins, hence impairing their functioning. Conclusion: In this study, we describe a North Indian family in which members were having JOAG and PCG due to a rare homozygous/ heterozygous mutation in OPTN. The coexistence of two types of glaucoma within a single pedigree suggests that certain OPTN mutations may be responsible for the onset of different glaucoma phenotypes.

Association of Thyroid Hormones with Prolactin, Follicle Stimulating Hormone and Luteinizing Hormone in Female Infertility

Human infertility is a major health problem worldwide having its impact on the social, psychological, economical and sexual life of a couple. Methods: Total of 80 subjects (Out of which 50 infertile female and 30 normal fertile female) were selected on gynecology infertility outpatient department between age group of 20 to 44 years. Out of 50 infertile women, 34 were of primary infertility and 16 of secondary infertility. Results: Statistically significant higher serum TSH levels were noted in the infertile subject with euthyroid (p=0.03) and hypothyroidism (p<0.001) when their distributions were compared to their respective fertile subjects. The rise in serum FT3 and FT4 in the infertile subjects with hyperthyroidism was found to be not significant as compared to the fertile subjects with hyperthyroidism. The mean serum prolactin concentration in the infertile female with euthyroid was significantly higher (p<0.01) than the fertile subjects with euthyroid. The infertile women with hypothyroidism had statistically significant higher prolactin levels than the other three categories (the fertile female and the infertile subjects with euthyroid and hyperthyroidism) (p<0.01). Conclusion: High prevalence of hypothyroidism was seen in infertile female. These disorders may lead to menstrual irregularities resulting in infertility.

Candidate screening of blast resistance donors for rice breeding

Rice blast is one of the most serious diseases in the world. The use of resistant cultivars is the most preferred means to control this disease. Resistance often breaks down due to emergence of new races; hence identification of novel resistance donors is indispensable. In this study, a panel of 80 released varieties from National Rice Research Institute, Cuttack was genotyped with 36 molecular markers that were linked to 36 different blast resistance genes, to investigate the varietal genetic diversity and molecular marker-trait association with blast resistance. The polymorphism information content of 36 loci varied from 0.11 to 0.37 with an average of 0.34. The cluster analysis and population structure categorized the 80 National Rice Research Institute released varieties (NRVs) into three major genetic groups. The principal co-ordinate analysis displays the distribution of resistant and moderately resistant NRVs into different groups. Analysis of molecular variance result demonstrated maximum (97%) diversity within populations and minimum (3%) diversity between populations. Among tested markers, two markers (RM7364 and pi21_79-3) corresponding tothe blast resistance genes (Pi56(t) and pi21) were significantly associated and explained a phenotypic variance of 4.9 to 5.1% with the blast resistance. These associated genes could be introgressed through marker-assisted to develop durable blast resistant rice varieties. The selected resistant NRVs could be good donors for the blast resistance in rice crop improvement research.

Comparative Study of the Serum Bilirubin and Various Other Liver Related Enzymes in Different Types of Jaundice

Background: This study was designed to compare the study of serum bilirubin and various other Liver related enzymes in different types of Jaundice in patients attending the Hi-Tech Medical College and Hospital, Bhubaneswar, Odisha. Methods: The study includes total 50 subjects, out of which 20 were controls and 30 were Jaundice cases. Thirty jaundice cases were divided into 10(Pre-Hepatic), 10(Hepatic) & 10(Post-Hepatic) jaundice patients according to inclusion-exclusion criteria. Results: The results of our study show that the levels of Total Bilirubin, Direct Bilirubin & Indirect bilirubin were significantly raised in the Jaundice patients than that of control. This study was found that the other liver enzyme i.e. SGOT, SGPT & ALP were found to be increased than the control. Conclusion: In conclusion, the high serum bilirubin level is a marker of Jaundice. Increased direct bilirubin and alkaline phosphatase (ALP) specifically points towards obstructive Jaundice, Increased indirect bilirubin level points towards pre-hepatic (Hemolytic) jaundice whereas increased bilirubin (Direct & Indirect) along with SGOT & SGPT levels points towards hepatic jaundice.

Enhanced proteolysis leads to pre-mature cell death under the influence of elicitor like mycelial components from karnal bunt (tilletia indica) pathogen in wheat callus cultures.

Calli raised from mature embryos of susceptible wheat cultivar WH 542 were used in the present study as in vitro bioassay system to study the influence of disease determinant(s) of Karnal bunt (Tilletia indica), a semi-biotrophic fungal pathogen of wheat. Influence of elicitor and conditioned medium (CM) prepared from fungal cultures of T. indica was investigated on induction of programmed cell death (PCD). Induction of PCD was observed as hypersensitive response (HR) in terms of browning at localized regions of callus cultures and induction of proteolytic enzyme(s). Elicitor treated calli showed higher induction of protease activity than untreated and CM-treated cultures, which showed not much change in the activity. It was further substantiated by gel protease assay and activation of caspase-3 like protein(s) in callus cultures that clearly suggested the presence of signaling molecule(s) in the fungal elicitor preparation rather than in conditioned medium. This study further demonstrated that only elicitor preparation possesses such molecule(s), which might be cell wall bound components, rather than secretory in nature as CM was unable to induce PCD in wheat callus cultivars.