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    Genetic study on ocular quantitative traits of glaucoma and myopia in Indian population
    (BITS Pilani, 2014) Sharmila P, Ferdinamarie
    Endophenotypes are measurable or quantifiable clinical traits (QTs) which are highly newlineinherited. Identification of gene loci for these precursor risk traits has potential significance newlinein risk prediction and disease management. Ocular QTs like optic disc area (ODA), vertical newlinecup disc ratio (VCDR) etc., are implicated in eye diseases like glaucoma, myopia and newlineothers in different populations. The current study was undertaken to evaluate the newlineassociation of known QT loci with endophenotypes like AL, CCT, IOP and VCDR. newlineMethodology newlineWe included three different sample sets namely (a) multigenerational consanguineous newlinefamilies without any history of ocular disorders (b) POAG and (c) myopia. The samples newlinewere recruited from the Chennai glaucoma study, INDO-US study on QTs and Myopia newlinestudy after detailed clinical evaluation. Heparinised blood sample was collected from these newlinepatients after informed consent for DNA extraction and subsequent genotype analysis. newlineThe association of SNPs flanking ATOH7 (rs1900004, rs3858145, rs17231602, rs4746741) newlineand ZNF469 (rs77330683) with optic disc parameters was analysed in large newlineconsanguineous south Indian pedigrees. The individuals were genotyped by direct newlinesequencing. The effect size (and#946;) and P value were obtained using the QFAM procedure in newlinePLINK, which performs a simple linear regression of phenotype on genotype, and then newlineuses a special permutation procedure to correct for family structure. newlineThe distribution of SNPs rs1900004, rs3858145 (ATOH7), rs10483727 (SIX1/SIX6), newliners1063192 (CDKN2B), rs9607469 (CARD10), rs1192415 (CDC7) in POAG (cases= 97) newlineand controls= 360) and LOXL1 (rs3825942 and rs1048661) in Pseudoexfoliation newline(cases=114 and controls=135) were analysed for putative association with IOP, AL, CCT newlineand VCDR. A model-based (additive, recessive, dominant) Chi square and linear newlineregression analysis was performed to analyse the statistical significance; while the newlineinteraction analysis was performed by logistic regression methods. newlineMutation screening of the eye development genes involved in AL .
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    Understanding the Role of Adiponectin in Proliferative Diabetic Retinopathy Design and Development of Therapeutic Molecules
    (BITS Pilani, 2015-07-18) Srinivasan, Vidhya
    Adiponectin (APN) is a protein hormone having anti-diabetic and anti-inflammatory properties.Its presence in ocular tissues has been postulated, to have escaped from circulation due to the newlinedysfunctional blood brain barrier (BRB) in retinal diseases. The purpose of this study is to newlineunderstand the origin of intraocular APN and its receptors, precisely measure vitreous APN in newlineproliferative diabetic retinopathy (PDR) and macular hole (MH), study its role in disease newlinepathogenesis of PDR and to unravel the therapeutic potential of APN. newlineAll human studies were done with approval from Institutional Review Board (IRB) and consent newlineof the participants. Tissues derived from donor eye balls were used for qPCR, immuno staining, newlinewestern blot analysis for localisation and expression studies. Vitreous samples were obtained newlinefrom patients who underwent vitrectomy surgery for PDR and MH and used for measurement of newlineAPN by ELISA. Vitreous amino acids were estimated by HPLC. Role of APN in the newlinepathogenesis of PDR was studied in retinal pericytes. Human retinal endothelial cells (HREC), newlinehuman choroidal endothelial cells (HCEC) and Human umbilical vein endothelial cells newline(HUVECs) were used for in vitro angiogenesis studies.
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    Studies on the Role of Chlamydia trachomatis Infection in the Pathogenesis of Reactive Arthritis/ Undifferentiated Spondyloarthropathy
    (BITS Pilani, 2018-07-18) Kumar, Praveen
    Reactive Arthritis/ undifferentiated spondyloarthropathy due to Chlamydia newlinetrachomatis is largely asymptomatic hence get unnoticed further, it causes chronic newlineinfection in major joints of male and female patients. Role of Chlamydia trachomatis in newlinethe pathogenesis in ReA/ uSpA patients was studied by estimating the frequency of newlineinfection. Intra-articular infection for either C. trachomatis MOMP/ plasmid was found in newline24.4% (11/45) ReA/ uSpA patients by either snPCR/ nPCR; plasmid and MOMP were newlinefound in 11/45 (24.4%) and 7/45 (15.5%) patients, respectively. 28.5% (6/21) ReA and newline20.8% (5/24) uSpA patients were found positive for either MOMP/ plasmid gene of C. newlinetrachomatis. The plasmid gene was also detected by PCR (conventional) in the urine of newline17.3% (6/35) uSpA patients without effusions. Cytological detection by DFA showed the newlinepresence of C. trachomatis EBs in the SF of 31.1% (14/45) ReA/ uSpA patients; while in newlinethe urine of uSpA patients without effusions, 13.3% (6/45) were C. trachomatis-positive. newlineAlthough anti-chlamydial antibodies (IgM, IgG, IgA) were detected in SF/ serum of ReA/ newlineuSpA patients, however, only anti-C. trachomatis IgA antibodies showed diagnostic newlineimportance (SF- 31.1%; 14/45 and serum 15.5%; 7/45). It was concluded that nPCR newlineshould be the method of choice for diagnosing intra-articular C. trachomatis DNA in SF newlineof chronic ReA/ uSpA patients with effusion. DFA for an initial rapid detection of an newlineacute episode of infection followed by the more confirmatory molecular diagnostic newlinemethod. Overall, the SF was found to be a more conclusive clinical specimen in both newlineacute and chronically C. trachomatis-infected ReA/ uSpA patients with effusion in terms newlineof molecular diagnosis by nPCR, C. trachomatis MOMP antigen detection and antichlamydial antibody response.
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    Genetic and Epigenetic Impacts of L1 Retrotransposition in Mouse and Man
    (BITS Pilani, 2015-08-18) Kannan, Manoj
    An interesting fact the Human Genome Sequencing Project revealed is that just around newlinetwo percent of the genome consists of genes, while the rest of it consists of repetitive newlinesequences and a group of diverse elements called transposons, which are mobile genetic newlineelements (Lander et al., 2001). This was also found to be by and large true in case of other newlinemammalians genomes as well (Waterston et al., 2002). In fact, transposable elements are newlinepresent in almost every eukaryotic organism whose genome has been sequenced so far (with newlinerare exception such as that of Ashbya gossypii, a filamentous fungus) (Huang et al., 2012). newlineTransposons have come a long way from being called selfish DNA or parasite (Orgel and newlineCrick, 1980; Yoder et al., 1997), to being recognized as an important player in the mammalian newlinegenomes (Rebollo et al., 2012), playing roles in altering the genome landscape and evolution newline(Hedges and Batzer, 2005) and in normal biological processes such as bringing about newlinephenotype variation (Akagi et al., 2013) and cellular diversity (Thomas et al., 2012), as well as newlineabnormalities such as cancers (Rodic and Burns, 2013). Approximately half of each newlinesequenced mammalian genome is comprised of various classes of transposable elements newline(TEs), mobilized by different mechanisms and accumulated over evolutionary time (Akagi et newlineal., 2013; Lander et al., 2001; Levin and Moran, 2011; Waterston et al., 2002).
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    Mycosynthesis of Inorganic Nanoparticles and their Evaluation in Catalysis and Nano fertilization
    (BITS Pilani, 2016-08-18) Bhargava, Arpit
    The impact of nanotechnology is increasing at tremendous pace due to its newlineremarkable potential. Nanoparticles are considered as the protagonist of the newlinenanotechnology revolution. Amid nanoparticles, inorganic nanoparticles are of special newlineinterest due to their unique and tuneable properties. In recent years, the surging demand of newlinenanoparticles has boosted unprecedented expansion of research for the development of newlinehigh yielding and sustainable synthesis methods which can deliver nanomaterials with newlinedesired characteristics. Unlike the well-established physico-chemical methods which have various limitations, biological methods inspired by mimicking natural biomineralization processes have great potential for nanoparticle synthesis. Of special interest,microorganisms isolated from metal rich regions develop resistance mechanism for their survival which can be exploited for synthesis of metal or metal oxide nanoparticles. Among various metal tolerant microorganisms, fungi represents a favourable natural machinery due to its large and most diverse secretome making it highly anticipated for oncell/ newlineextracellular synthesis of nanoparticles. Following this rationale and the hypothesis newlinethat well adapted fungi isolated from native metal rich soil conditions can be a better newlinesource for bio-inspired synthesis of metal nanoparticles the present work serves as the newlineinitial step in development of an eco-friendly method for synthesis of iron oxide and gold newlinenanoparticles (IONPs and Au NPs) by selecting a promising fungal isolate.
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    Studies on the Echiurids from Indian Waters and Their Biology
    (BITS Pilani, 1969) Mathew, Joseph
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