Drosophila king tubby (ktub) mediates light-induced rhodopsin endocytosis and retinal degeneration.

Background: The tubby (tub) and tubby-like protein (tulp) genes encode a small family of proteins found in many organisms. Previous studies have shown that TUB and TULP genes in mammalian involve in obesity, neural development, and retinal degeneration. The purpose of this study was to investigate the role of Drosophila king tubby (ktub) in rhodopsin 1 (Rh1) endocytosis and retinal degeneration upon light stimulation.

Mps one binder 2 gene upregulation in the stellation of astrocytes induced by cAMP-dependent pathway.

Astrocytes, the major glial population in the central nervous system (CNS), play an important role in neuronal homeostasis, neurogenesis, and synaptogenesis. The cells have a stellate shape with elaborated processes in the developing CNS. Cultured astrocytes become stellate when the cells undergo differentiation in response to stimuli.

The promotion of neurite formation in Neuro2A cells by mouse Mob2 protein.

The molecular mechanism of neuritogenesis has been extensively studied but remains unclear. In this study, we identified Mob2 protein which plays a significant role in promoting neurite formation in Neuro2A (N2A) cells. Our results showed that Mob2 was expressed in developing N2A cells.

Function of Drosophila mob2 in photoreceptor morphogenesis.

The Drosophila photoreceptor is a highly polarized cell; a mature photoreceptor cell in Drosophila contains a photosensitive structure (the rhabdomere) and a supporting membrane (stalk) at its apical membrane. In a screen to isolate genes involved in determining stalk and rhabdomere formation, this study has identified the Drosophila mob2 (Dmob2) gene. Dmob2 belongs to a Mob1/phocein domain protein family whose functions are involved in polarized cell growth and asymmetric cell fate determination in yeast.

Drosophila mars is required for organizing kinetochore microtubules during mitosis.

Spindle assembly is essential for the equal distribution of genetic material to the daughter cells during mitosis. The process of spindle assembly is complicated and involves multiple levels of molecular regulation. It is generally accepted that mitotic spindles are emanated from the centrosomes and are assembled in the vicinity of chromosomes.

Investigation of the association between interleukin-1beta polymorphism and normal tension glaucoma.

Purpose: In normal tension glaucoma (NTG), factors other than elevated intraocular pressure are likely to have a role in the pathogenesis of optic neuropathy. The potential similarities in cellular apoptosis leading to neurodegeneration between Alzheimer's disease and NTG were shown in recent studies. The interleukin-1beta (IL-1beta; -511) and IL-1beta (+3953) polymorphisms were found to increase risk with Alzheimer's disease.

Normal tension glaucoma is not associated with the interleukin -1alpha (-889) genetic polymorphism.

Background: Factors other than intraocular pressure are likely to play a role in the pathogenesis of glaucomatous optic neuropathy, particularly in individuals with normal tension glaucoma (NTG). Recent laboratory evidence has shown that there are potential similarities between Alzheimer disease and NTG in cellular apoptosis leading to neurodegeneration. IL-1alpha (-889) T allele polymorphism has been found to increase the risk of developing Alzheimer disease.

Aloe-emodin metabolites protected N-methyl-d-aspartate-treated retinal ganglion cells by Cu-Zn superoxide dismutase.

A high concentration of glutamate in the eyes not only activates N-methyl-D-aspartate (NMDA) receptors, but also is toxic to the retina ganglion cells (RGCs) in glaucomatous patients. Our previous study had found that aloe-emodin sulfates/glucuronides metabolites, an anthraquinone polyphenol, exerted a neuroprotective activity upon RGCs. In order to understand the mechanisms involved in this neuroprotective effect, this study aimed to determine the expressions of RNAs and proteins in various treatments.

Polymorphism in the IL-1alpha (-889) locus associated with elevated risk of primary open angle glaucoma.

Purpose: Recent laboratory evidence indicates that the inflammatory cytokine, interleukin-1 (IL-1), has either protective or adverse effects on primary open angle glaucoma (POAG). Inheritance of the IL-1alpha (-889) polymorphism (the T allele), previously shown to increase IL-1 production, has been associated with an elevated risk of Alzheimer's disease. The neuronal injuries associated with Alzheimer's disease have a number of similarities with the optic nerve changes often seen with POAG.

The TGFbeta1 gene codon 10 polymorphism contributes to the genetic predisposition to high myopia.

Purpose: Transforming growth factor-beta (TGFbeta), a multifunctional growth factor that plays a key role in the remodeling of scleral tissue, may be involved in the predisposition and pathophysiology of high myopia. Our aim was to examine the association between myopia and the polymorphisms within codon 10 of the TGFbeta1 gene.

Methods: This was a case control study.

The role of Ca2+ on the DADS-induced apoptosis in mouse-rat hybrid retina ganglion cells (N18).

Diallyl disulfide (DADS), a component of garlic, has been shown to induce growth inhibition and apoptosis in human cancer cell types. The present studies were designed to investigate the effects of DADS on mouse-rat hybrid retina ganglion cells (N18) to better understand its effect on apoptosis and apoptosis-related genes in vitro. Cell viability, cell cycle analysis, reactive oxygen species (ROS), Ca2+ production, mitochondria membrane potential, apoptosis induction, associated gene expression and caspases-3 activity were examined by flow cytometric assay and/or Western blot.

Association of E-cadherin gene 3'-UTR C/T polymorphism with primary open angle glaucoma.

Purpose: E-cadherin (E-CDH) is one of the most important cell surface glycoproteins involved in cell morphogenesis. In primary open angle glaucoma (POAG), the extracellular matrixes of trabecular meshwork and lamina cribrosa in the optic nerve head are out of balance. We suspected that E-CDH by way of metalloproteinases is closely related to POAG.

Using Drosophila eye as a model system to characterize the function of mars gene in cell-cycle regulation.

Human hepatoma up-regulated protein (HURP), a cell-cycle regulator, is found consistently overexpressed in human hepatocellular carcinoma. At present, the function of HURP in cell-cycle regulation and carcinogenesis remains unclear. In database mining, we have identified a mars gene in Drosophila, which encodes a protein with a high similarity to HURP in its guanylate kinase-associated protein (GKAP) motif.

Transporter associated with antigen processing gene 1 codon 333 and codon 637 polymorphisms are associated with primary open-angle glaucoma.

Introduction: Genetic factors in the immune system are widely suspected to have a role in the etiology of glaucoma. In this study, we evaluated the association between primary open-angle glaucoma (POAG) and the transporter associated with antigen processing (TAP) gene polymorphisms. The TAP gene polymorphisms we evaluated were TAP1-1 codon 333 A/G (Ile-Val), TAP1-2 codon 637 (Asp-Gly), TAP2-1 codon 379 (Val-Ile), TAP2-2 codon 665 (Thr-Ala) and codon 687 (Stop-Gln), and TAP2-3 codon 565 (Ala-Tht).

Distribution of oxidation enzyme eNOS and myeloperoxidase in primary open angle glaucoma.

Genetic factors and the influence of superoxide are known to play roles in the etiology of glaucoma. We evaluated the association between primary open angle glaucoma (POAG) and two polymorphisms in the epithelial nitric oxide synthase (eNOS) gene, and one polymorphism in the myeloperoxidase (MPO) gene. We enrolled 66 patients with POAG and 100 healthy volunteers in this study.

Dynactin affects extension and assembly of adherens junctions in Drosophila photoreceptor development.

Drosophila eye development is a progressive process including cell fate determination, pattern formation, and rhabdomere morphogenesis. During eye development, a dramatic change in cell shape, which involves turning and extension of the photoreceptor apical surface, occurs in the early pupal stages. It is known that assembly and extension of adherens junctions (AJs) play an important role in this process.

Use of gain-of-function study to delineate the roles of crumbs in Drosophila eye development.

The cell polarity gene, crumbs (crb)), has been shown to participate in the development and degeneration of the Drosophila retina. Mutations in CRB1, the human homologue of Drosophila crb, also result in retinitis pigmentosa and Leber congenital amaurosis. In this study, we used the gain-of-function approach to delineate the roles of CRB in developing Drosophila eye.

Insulin-like growth factor-II gene polymorphism is associated with primary open angle glaucoma.

Hypoxia and ischemia play important roles in the onset and progression of glaucoma. Insulin-like growth factors (IGF) are important neurotrophic agents that respond to hypoxia-ischemia. In this study, we enrolled 60 primary open angle glaucoma (POAG) patients and 104 healthy volunteers from the China Medical College Hospital.