Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Homocystinuria is an inherited metabolic disorder caused by severe deficiency of cystationine beta-synthase activity, resulting in the tissue accumulation of homocysteine (Hcy). Affected patients usually present many signs and symptoms such as seizures, mental retardation, atherosclerosis and stroke. The aim of this study is to evaluate in vivo and in vitro effects of Hcy using hippocampal slices from Wistar rats exposed to oxygen and glucose deprivation (OGD), followed by reoxygenation, an in vitro model of hypoxic-ischemic events. Neural cell injury was quantified by the measurement of lactate dehydrogenase (LDH) released from damaged cells into the extracellular fluid. The results showed that both in vivo and in vitro Hcy increased the LDH released to de incubation medium, suggesting an increase of tissue damage caused by OGD. This fact can be related with the high incidence of stroke in homocystinuric patients.
 ...
PMID:Homocysteine increases neuronal damage in hippocampal slices receiving oxygen and glucose deprivation. 1710 28

Human cytomegalovirus (HCMV), a double-stranded DNA virus in the herpesvirus family, is a ubiquitous virus that infects greater than 40-60% of the general population and up to 100% within some subpopulations and/or geographic areas (1). HCMV has a complex pathobiology because infection of immunocompetent individuals is rarely associated with severe clinical symptoms and in most cases is simply asymptomatic, whereas HCMV infections can cause a wide range of severe diseases, including mononucleosis, mental retardation, deafness, chorioretinitis, and fatal diseases, such as interstitial pneumonia and disseminated virus infections in immunocom-promised hosts (1). As with other herpesviruses, HCMV is thought to establish latent or persistent infections. Reactivation of this infection is frequently encountered during pregnancy and in organ transplant and acquired immune deficiency syndrome (AIDS) patients (1). In addition, HCMV has been implicated as a co-etiological agent in cervical cancer (2) and has been found associated with a wide range of other tumors (1). More recently, HCMV has also been shown to be epidemiologically linked to restenosis (3-5) and atherosclerosis (5,6). The severity of these HCMV-associated diseases warrants an accurate ability to detect and diagnose persons with HCMV, especially because of the clinical availability of the anti-HCMV agents, ganciclovir and foscarnet, which have been used successfully to treat patients with HCMV viremia.
 ...
PMID:Immunological methods for the detection of human cytomegalovirus. 2134 Sep 49

Primary cilia are microtubule-based organelles found in most mammalian cell types. Cilia act as sensory organelles that transmit extracellular clues into intracellular signals for molecular and cellular responses. Biochemical and molecular defects in primary cilia are associated with a wide range of diseases, termed ciliopathies, with phenotypes ranging from polycystic kidney disease, liver disorders, mental retardation, and obesity to cardiovascular diseases. Primary cilia in vascular endothelia protrude into the lumen of blood vessels and function as molecular switches for calcium (Ca2+) and nitric oxide (NO) signaling. As mechanosensory organelles, endothelial cilia are involved in blood flow sensing. Dysfunction in endothelial cilia contributes to aberrant fluid-sensing and thus results in vascular disorders, including hypertension, aneurysm, and atherosclerosis. This review focuses on the most recent findings on the roles of endothelial primary cilia within vascular biology and alludes to the possibility of primary cilium as a therapeutic target for cardiovascular disorders.
 ...
PMID:The Roles of Primary Cilia in Cardiovascular Diseases. 3048 94


<< Previous 1 2