Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0004153 (atherosclerosis)
 77,401 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The thickness of the sclera has been morphologically examined in 165 cadaver eyes and the thickness of the reticular plate (RP) in 68 eyes in open-angle glaucoma, atherosclerosis, and involution. The measurements have shown that the sclera and RP are thinner in atherosclerosis than in the control, this process being more manifest in the RP. The RP supporting characteristics deteriorate even in vascular abnormalities. Open-angle glaucoma is associated with a most significant thinning of the sclera (t up to 5.33), but when this process develops far, the thinning ceases (t = 0.06). RP thinning is more marked (t = 2.2 = 7.58) and does not cease in case of a far-developed process. The values of the pressure on the posterior segment of the eye in health and in glaucoma are presented; this pressure is drastically elevated in glaucoma, which fact may explain the stretching of the entire posterior segment (of the sclera by 1.5 times and of the RP by 8.5 times). Since the mechanical properties of the RP are poor and the plate virtually disappears, the optic nerve is devoid of its support.
 ...
PMID:[Quantitative biochemical shifts in the connective tissue of the rear section of the eyeball in glaucoma and atherosclerosis]. 272 63

Disease genes may be identified through functional, positional, and candidate gene approaches. Although extensive and often labor-intensive studies such as family linkage analysis, functional investigation of gene products and genome database searches are usually involved, thousands of human disease genes, especially for monogenic diseases with Mendelian transmission, have been identified. However, in diseases caused by more than one gene, or by a combination of genetic and environmental factors, identification of the genes is even more difficult. Common examples include atherosclerosis, cancer, Alzheimer's disease, asthma, diabetes, glaucoma, and age-related macular degeneration. There have been conflicting reports on the roles of associated genes. Even with population-based case-control studies and new statistical methods such as the sib-ship disequilibrium test and the discordant alleles test, there is no agreement on whether alpha2-macroglobulin (A2M) is a gene for Alzheimer's disease. Another example is the inconsistent association between age-related macular degeneration and ATP-binding cassette transporter (ABCR). Ethnic variation causes further complications. In our investigation of LDL-receptor variants in familial hypercholesterolemia, and the trabecular meshwork inducible glucocorticoid response protein, or myocillin (TIGR-MYOC) mutation pattern in primary open angle glaucoma, we did find dissimilar results in Chinese compared to Caucasians. New information from the Human Genome Project and advancements in technologies will aid the search for and confirm identification of disease genes despite such challenges.
 ...
PMID:Hunting for disease genes in multi-functional diseases. 1109 34

DNA damage is related to a variety of degenerative diseases such as cancer, atherosclerosis and neurodegenerative diseases, depending on the tissue affected. Increasing evidence indicates that reactive oxygen species (ROS) play a key role in the pathogenesis of primary open angle glaucoma (POAG), the main cause of irreversible blindness worldwide. Oxidative DNA damage is significantly increased in the ocular epithelium regulating aqueous humor outflow, i.e., the trabecular meshwork (TM), of glaucomatous patients compared to controls. The pathogenic role of ROS in glaucoma is supported by various experimental findings, including (a) resistance to aqueous humor outflow is increased by hydrogen peroxide by inducing TM degeneration; (b) TM possesses remarkable antioxidant activities, mainly related to superoxide dismutase-catalase and glutathione pathways that are altered in glaucoma patients; and (c) intraocular-pressure increase and severity of visual-field defects in glaucoma patients parallel the amount of oxidative DNA damage affecting TM. Vascular alterations, which are often associated with glaucoma, could contribute to the generation of oxidative damage. Oxidative stress, occurring not only in TM but also in retinal cells, appears to be involved in the neuronal cell death affecting the optic nerve in POAG. The highlighting of the pathogenic role of ROS in POAG has implications for the prevention of this disease as indicated by the growing number of studies using genetic analyses to identify susceptible individuals and of clinical trials testing the efficacy of antioxidant drugs for POAG management.
 ...
PMID:The role of oxidative stress in glaucoma. 1641 23

Central retinal vein occlusion (CRVO) remains one of the most common retinal vascular disorders that may lead to blindness. The etiology is unknown, however, predisposing factors such as hypertension, diabetes, atherosclerosis and hypercoagulable states have all been described. Local ophthalmic illnesses such as open angle glaucoma, ocular trauma and orbital infections have also been suggested as causative. CRVO can be subdivided into two clinical types, ischemic and non-ischemic. The non-ischemic type comprises the milder form of the disease with partial venous obstruction and good visual outcome. Ischemic CRVO is the severe form and is associated with visual loss, because of nearly total retinal vein obstruction and poor perfusion to retina. In addition, patients with ischemic CRVO may end up with additional complications such as neovascular glaucoma that may lead to blindness. Over 90% of CRVO occurs in patients > 65 years. The presenting symptom is a sudden painless mono-ocular decrease in visual acuity which could result from macular edema, ischemia, or intraocular bleeding. Ophthalmoscopic examination reveals macular edema, retinal bleeding (more peripheral), tortuous vein dilatation and swollen disc. Current treatment modalities include systemic use of anticoagulation drugs, local treatments including laser, intravitreal injection of anti-vascular endothelial growth factor and surgery (vitrectomy). This review presents the current therapeutic modalities in CRVO.
 ...
PMID:[Treatment modalities in central retinal vein occlusion]. 2081