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Padma G.,Osmania University | Swapna N.,Osmania University | Mamata M.,Osmania University | Charita B.,Sandor Proteomics Pvt Ltd | Padma T.,Osmania University
Clinical and Experimental Hypertension | Year: 2014

Introduction: AGT gene harbors several variants of which 21 are found to be in high linkage disequilibrium as per Hapmap database. Studies delineating the importance of these tagged SNPs are very limited and lacking from Indian population. In the present study, we evaluated the contribution of four tagged SNPs namely, g.6635G>A, g.6506G>A, g.12840G>A, and g.13828T>C at AGT locus along with the analyses of haplotype and epistatic interactions in causing susceptibility to essential hypertension (EHT). Methods: About 215 hypertensives and 230 normotensives were genotyped for selected tagged SNPs using PCR-RFLP method. Results: Significant association was obtained for g.6635G>A and g.6506G>A polymorphisms wherein GG homozygotes for both the markers were at risk for developing the condition. g.13828T>C polymorphism specially, female heterozygotes (TC) were found to be at increased risk for EHT. Haplotype GGGC was found to have a significant protective effect (p=0.0059). Markers g.6506G>A and g.12840G>A resulted in the creation of new enhancer sites thereby affecting splicing process. Conclusion: The present report is the first one in the literature showing general- and gender-specific association of g.6506G>A and g.13828T>C polymorphisms, respectively, with EHT. However, further studies for replication of present observations are warranted from other populations and other parts of India. © 2014 Informa Healthcare USA, Inc.

Bashyam M.D.,DNA Diagnostics Center | Chaudhary A.K.,DNA Diagnostics Center | Sinha M.,DNA Diagnostics Center | Nagarajaram H.A.,DNA Diagnostics Center | And 7 more authors.
Journal of Cellular Biochemistry | Year: 2012

Maple Syrup Urine Disease is a rare metabolic disorder caused by reduced/absent activity of the branched chain α-Ketoacid dehydrogenase enzyme complex. Mutations in BCKDHA, BCKDHB, and DBT, that encode important subunits of the enzyme complex namely E1α, E1β, and E2, are the primary cause for the disease. We have performed the first molecular genetic analysis of MSUD from India on nine patients exhibiting classical MSUD symptoms. BCKDHA and BCKDHB mutations were identified in four and five patients, respectively including seven novel mutations namely the BCKDHA c.1249delC, c.1312T>C, and c.1561T>A and the BCKDHB c.401T>A, c.548G>A, c.964A>G, and c.1065delT. The BCKDHB c.970C>T (p.R324X) mutation was shown to trigger nonsense mediated decay-based degradation of the transcript. Seven of the total 11 mutations resulted in perturbations in the E1α or E1β C-termini either through altered termination or through an amino acid change; these are expected to result in disruption of E1 enzyme complex assembly. Our study has therefore revealed that BCKDHA and BCKDHB mutations might be primarily responsible for MSUD in the Indian population. © 2012 Wiley Periodicals, Inc.

Bashyam M.D.,DNA Diagnostics Center | Chaudhary A.K.,DNA Diagnostics Center | Reddy E.C.,DNA Diagnostics Center | Reddy E.C.,University of Wurzburg | And 16 more authors.
British Journal of Dermatology | Year: 2012

Background Hypohidrotic/anhidrotic ectodermal dysplasia (HED) is a rare Mendelian disorder affecting ectodermal tissues. The disease is primarily caused by inactivation of any one of three genes, namely ectodysplasin A1 (EDA-A1), which encodes a ligand belonging to the tumour necrosis factor (TNF) superfamily; ectodysplasin A receptor (EDAR), encoding the EDA-A1 receptor and ectodysplasin A receptor-associated death domain (EDARADD), encoding an adaptor protein. X-linked recessive (EDA-A1), the predominant form of HED, as well as autosomal recessive and dominant (EDAR and EDARADD) inheritance patterns have been identified in affected families. Objectives To determine the common genes causing HED in India. Methods We performed mutation analysis on 26 HED families from India (including 30 patients). In addition, we carried out sequence and structural analysis of missense/nonsense and insertion/deletion mutations. Results Among the 26 families analysed, disease-causing EDAR mutations were identified in 12 (46%) while EDA-A1 mutations were detected in 11 (42%). Four novel mutations in EDAR and five in EDA-A1 were identified. More importantly, a possible founder EDAR mutation, namely c.1144G>A, was identified in five independent families, thus accounting for about one-fifth of affected families in whom mutation was detected. A majority of EDA-A1 mutations localized to the TNF-like domain while the location of EDAR mutations was more widespread. Conclusions This is the first report of a founder EDAR mutation and of a significantly high frequency of autosomal recessive HED. © 2011 The Authors. BJD © 2011 British Association of Dermatologists.

Padma G.,Osmania University | Charita B.,Sandor Proteomics Pvt Ltd | Swapna N.,Osmania University | Mamata M.,Osmania University | Padma T.,Osmania University
JRAAS - Journal of the Renin-Angiotensin-Aldosterone System | Year: 2015

Introduction: AGT is the first gene to be linked to essential hypertension (EHT). It harbors several variants of which only few polymorphisms are found to exhibit positive and negative associations with hypertension. In the present study, the AGT gene was screened to detect already reported and novel variations contributing to the development of hypertension. Method: In total, 215 hypertensives and 230 normotensives were screened for variations in all the five exons and a part of promoter of AGT gene using single strand conformation polymorphism analysis followed by sequencing of samples showing mobility shifts on polyacrylamide gels. Results: Five novel variants, namely c.-61G>A in promoter, c.-4+17C>T in intron1, c.24T>C and c.28A>T in Exon2, and c.∗90 T>C in 3' untranslated region were detected in the AGT gene. c.-61G>A lies in the promoter region that plays a critical role in its expression. Variation c.-4+17C>T created a new enhancer site. c.24T>C (TCT-TCC) is a silent mutation while c.28A>T (p. M10L) has a possible damaging effect on the AGT protein. c.∗90T>C, detected in the 3' untranslated region is thought to play an important role in the translation and stability of the mRNA. Conclusion: Studies on the functional role of these novel variants are warranted to understand the mechanism underlying the development of EHT. © SAGE Publications.

Sathyavathi R.,University of Hyderabad | Dingari N.C.,Massachusetts Institute of Technology | Barman I.,Massachusetts Institute of Technology | Prasad P.S.R.,National Geophysical Research Institute Council for Scientific and Industrial Research | And 5 more authors.
Journal of Biophotonics | Year: 2013

In this letter, we propose a novel method for diagnosis of tuberculous meningitis using Raman spectroscopy. The silicate Raman signature obtained from Mycobacterium tuberculosis positive cases enables specific and sensitive detection of tuberculous meningitis from acquired cerebrospinal fluid samples. The association of silicates with the tuberculosis mycobacterium is discussed. We envision that this new method will facilitate rapid diagnosis of tuberculous meningitis without application of exogenous reagents or dyes and can be aptly used as a complementary screening tool to the existing gold standard methods. © 2013 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

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