Publications by authors named "Ramani Shyam Kapuganti"

Pseudoexfoliation is a complex, progressive, and systemic age-related disorder. The early stage of deposition of extracellular fibrillar material on ocular and extraocular tissues is termed as pseudoexfoliation syndrome (PEXS). The severe advanced stage is known as pseudoexfoliation glaucoma (PEXG), which involves increased intraocular pressure and optic nerve damage.

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Pseudoexfoliation (PEX) is a multifactorial age-related disease characterized by the deposition of extracellular fibrillar aggregates in the anterior ocular tissues. This study aims to identify the genetic and epigenetic contribution of clusterin (CLU) in PEX pathology. CLU is a molecular chaperone upregulated in PEX and genetically associated with the disease.

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Aims: The etiology of pseudoexfoliation (PEX), a stress-induced fibrillopathy and a leading cause of secondary glaucoma worldwide, remains limited. This study aims to understand the role of the Wnt antagonist Dickkopf-related protein 1 (DKK1) in PEX pathophysiology and assess its candidature as a biomarker for PEX.

Main Methods: Expression levels of DKK1 and Wnt signaling genes were assayed in the anterior ocular tissues of study subjects by qRT-PCR, Western blotting, and immunohistochemistry.

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Article Synopsis
  • Pseudoexfoliation (PEX) is an age-related eye disease marked by protein deposits on the eye, and this study investigates the role of specific genetic variants in the fibulin-5 (FBLN5) gene as potential risk factors for developing PEX.
  • Researchers analyzed 13 genetic variants (SNPs) in FBLN5 using advanced genotyping methods on a sample of 200 controls and 273 PEX patients to uncover associations between these SNPs and the disease.
  • The study finds significant links between two specific variants (rs17732466 and rs72705342) and severe PEX known as pseudoexfoliation glaucoma (PEXG), highlighting rs72705342 as a functional variant that
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Polymorphisms in the PTK2B-CLU locus have been associated with various neurodegenerative disorders including pseudoexfoliation glaucoma, Alzheimer's and Parkinson's. Many of these genomic variants are within enhancer elements and modulate genes associated with the disease pathogenesis. However, mechanisms by which they control the gene expression is unknown.

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Article Synopsis
  • * This study sought to understand the role of vimentin in PEX and compared the levels of vimentin, clusterin, and fibulin-5 in the eye fluid and blood of patients with varying stages of PEX to healthy controls.
  • * Results showed elevated levels of vimentin in both the lens capsule and the aqueous humor of PEX patients, with significant differences in plasma levels of vimentin and clusterin when compared to controls, suggesting a potential link between these
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This study is intended to investigate the epigenetic regulation of the most conserved molecular chaperone, HSP70 and its potential role in the pathophysiology of pseudoexfoliation syndrome (PEXS) and glaucoma (PEXG), a protein aggregopathy, contributing significantly to world blindness. Expression levels of HSP70 were significantly decreased in the lens capsule (LC) of PEXS but not in PEXG compared with that in control. Bisulfite sequencing of the LC of the study subjects revealed that the CpG islands (CGIs) located in the exonic region but not in the promoter region of HSP70 displayed hypermethylation only in PEXS individuals.

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Article Synopsis
  • Fibulin-5 (FBLN5) is an important protein that helps activate LOXL1, which is necessary for forming elastin in the extracellular matrix, affecting tissue structure.
  • The study identified genetic variations (polymorphisms) in the FBLN5 gene associated with the eye disorder pseudoexfoliation (PEX) by analyzing subjects from an Indian population.
  • Results showed that two specific polymorphisms were linked to an increased risk of PEX, and FBLN5 was found to be less expressed in individuals affected by PEX, suggesting it plays a role in the disorder's development.
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