Gln48His is the prevalent myocilin mutation in primary open angle and primary congenital glaucoma phenotypes in India.

Contains fulltext : 47799.pdf (publisher's version ) (Open Access)PURPOSE: Myocilin gene defects have been originally implicated in primary open angle glaucoma (POAG). Based on multiple reports for the occurrence of Gln48His mutation (c.144G>T; HGMD accession number CM023962) among Indian POAG patients, we wanted to estimate the prevalence of this mutation in primary open angle and primary congenital glaucoma (PCG) in India and assess its role in the causation of the disease. METHODS: Two hundred cases each of POAG and PCG were screened for the Gln48His mutation by RFLP (AccI) analysis of the PCR amplicons followed by confirmation of the c.144G>T change by direct sequencing. RESULTS: The Gln48His mutation was detected in 9 different glaucoma patients (four POAG and five PCG). While all four POAG cases were heterozygous, among PCG cases, four were heterozygous and one exhibited homozygous genotype for the mutation. One each of POAG and PCG patients was detected to be heterozygous for CYP1B1 mutation (c.1656C>T, Pro437Leu) and (c.1449G>A, Arg368His), respectively. None of the 300 ethnically matched normal controls contained either the MYOC or CYP1B1 mutation(s). CONCLUSIONS: The myocilin mutation, Gln48His, represents an allelic condition involving a spectrum of glaucoma phenotypes in Indian populations, and could be a potential risk factor towards disease predisposition among patients of Indian origin. The study also highlights the role of MYOC as a candidate in different glaucoma subtypes that needs to be investigated further

Evaluation of Optineurin as a candidate gene in Indian patients with primary open angle glaucoma.

Contains fulltext : 47454.pdf (publisher's version ) (Open Access)PURPOSE: To evaluate the role of the optineurin gene (OPTN) in Indian primary open angle glaucoma (POAG) patients from different parts of the country. METHODS: Two hundred patients with POAG and 200 ethnically matched normal controls were recruited from various parts of India for the study. The entire coding region of OPTN along with the intron-exon boundaries were screened by PCR and single strand conformation polymorphism (SSCP) followed by direct sequencing. A rapid screening method was developed for some of the observed variants by denaturing high performance liquid chromatography (dHPLC). Four variants were also confirmed by digesting the amplicon with appropriate restriction enzymes. RESULTS: Seven nucleotide changes were observed in OPTN of which one was a putative mutation in exon 16 (Arg545Gln) that was observed in six POAG patients and not in the controls (pA and 879-5C>T). But frequencies of the minor allele were not significantly different among the patients and controls. The Met98Lys variant that was identified to be a potential risk factor for NTG and POAG in some Asian populations and also for modulating IOP in Caucasian populations, did not exhibit any significant association to the disease phenotype. CONCLUSIONS: Despite a putative mutation (Arg545Gln) in some patients, the present study does not suggest a significant involvement of OPTN in POAG patients of Indian origin

Triple layer hermetic bags for safe storage of dry Chilli (Capsicum annuum L.) pods

Aflatoxin contamination is a major concern in dry chilli pods during storage, which renders chilli flakes, and chilli powder unsafe for consumption and unfit for trade. Traditional method of storage also results in both qualitative as well as quantitative losses. In our study, we evaluated Purdue improved crop storage (PICS) based triple layer hermetic bags (PICS triple bags) for their efficacy in safe storage of dry chilli pods. Four different types of storage bags including untreated jute bag, polythene bag, triple layer hermetic bag, and fungicide treated jute bag were tested for three different storage periods (2, 4, and 6 month). Results suggest that aflatoxin levels resulting from Aspergillus flavus infection were below detectable levels in chilli pods stored in PICS triple bags owing to the modified atmospheric conditions of hypoxia and hypercarbia conditions created inside the bags. Further, dry chilli pods stored in PICS triple bags for 2, 4 and 6 month recorded no loss in test weight (1000 seeds) and no change in moisture content, whereas significantly moisture loss was observed in remaining treatment bags. Germination percentage of the seeds from the PICS triple bags at 2, 4 and 6 month storage was highest (72%) compared to all other treatment bags. Overall, we conclude that the PICS triple bags were effective in safe storage of dry chilli pods by ensuring detrimental environment to Aspergillus flavus growth and preserved both qualitative and quantitative characteristics including test weight, moisture content, and per cent germination compared to other storage bags