PHARC (Polyneuropathy, Hearing loss, Ataxia, Retinitis pigmentosa and Cataracts) (MIM# 612674) is an autosomal recessive neurodegenerative disease caused by mutations in the ABHD12 gene.
PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataracts) is a recently described autosomal-recessive neurodegenerative disease caused by mutations in the α-β-hydrolase domain-containing 12 gene (ABHD12).
The downregulated expression of ADAM9 may serve as a marker for anterior polar cataracts in addition to previously known proteins, fibronectin, alpha-SMA, and beta ig-h3.
We investigated that GLUT levels in LECs differed significantly, thus leading to the direct enhancement of RAGE-associated superoxide generation in DM patients with cataracts.
Mutations in mitochondrial acylglycerol kinase (AGK) cause Sengers syndrome, which is characterized by cataracts, hypertrophic cardiomyopathy, and skeletal myopathy.
To settle this issue we developed transgenic mice that overexpress AR in their lens epithelial cells and found that they become susceptible to the development of diabetic and galactose cataracts.
In this study, we identified the binding sites and structurally characterized the interaction between gigantol and AR, to understand the mechanism (s) of the effects of gigantol on cataracts.
In type 2 diabetic patients with suboptimal glycaemic control, the z-4 allele of ALR2 (CA)n polymorphism was independently associated with increased susceptibility to cataracts.
One gene within the candidate interval, ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), was considered a plausible disease gene since a missense mutation had previously been shown to cause progressive neurodegeneration, cataracts, skin laxity, joint dislocations and metabolic derangement in a consanguineous Algerian family.
This is the first documented report of an inborn error of P5CS and suggests that this disorder should be considered in the differential diagnosis in patients with neurodegeneration and/or cataracts and connective tissue disease.
To study whether presenilin 1 (PSEN1), apolipoprotein E (APOE), and kinesin light chain 1 (KLC1) genotypes are associated with the risk of developing age-related cortical cataracts in the Han Chinese population.
To detect cell specific apoptosis factors, Fas and Fas ligand, and the common intracellular apoptosis modulators, interleukin-1 beta converting enzyme (ICE)-like protease (caspase 1), Bcl-2, Bcl-xL and Bax in lens epithelial cells (LEC) of human cataracts.
This study suggests that apoptotic cell death might occur in lens epithelial cells from anterior polar cataracts and decreased expression of Bcl-2 might play a role in the pathologic cellular mechanism of anterior polar cataracts.
This further increases the genetic heterogeneity of inherited cataracts and provides clues as to the importance of BFSP1 in the cell biology of intermediate filaments and their role in the eye lens.
This Y-sutural cataract is caused by an E233del mutation in BFSP2 which provides additional evidence supporting mutations in BFSP2 as a cause for cataract and demonstrates phenotypic variability in cataracts caused by BFSP2.
The results show that WRN-rs11574311 was initially associated with ARC in general, cortical, and mixed cataracts (P = 0.003, odds ratio [OR] = 1.49; P = 0.001, OR = 1.68; and P < 0.0001, OR = 2.08), BLM-rs1063147 with nuclear cataract (P = 0.03, OR = 1.31), WRN-rs2725383 with cortical cataract (P = 0.01, OR = 1.49), and WRN-rs4733220 and WRN-rs2725338 with mixed cataract (P = 0.04, OR = 0.74; P = 0.003, OR = 0.60).
These data help explain the high enzymatic activity of calpain II in young rat lens, susceptibility of young rat lens to a variety of cataracts showing increased calcium and calpain-induced proteolysis, and low calpain enzyme activity in human lens.
To detect cell specific apoptosis factors, Fas and Fas ligand, and the common intracellular apoptosis modulators, interleukin-1 beta converting enzyme (ICE)-like protease (caspase 1), Bcl-2, Bcl-xL and Bax in lens epithelial cells (LEC) of human cataracts.