Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0002736 (amyotrophic lateral sclerosis)
19,048 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Neuromyelitis optica (NMO), also known as Devic's disease, is an inflammatory demyelinating disease that affects selectively the optic nerves and the spinal cord, possibly mediated by an immune mechanism distinct from that of multiple sclerosis (MS). Recent studies indicate that NMO also involves the brain. Here, we studied gene expression profile of brain lesions of a patient with NMO by using DNA microarray, along with gene expression profile of the brains of Parkinson disease and amyotrophic lateral sclerosis patients. We identified more than 200 genes up-regulated in NMO brain lesions. The top 20 genes were composed of the molecules closely associated with immune regulation, among which marked up-regulation of interferon gamma-inducible protein 30 (IFI30), CD163, and secreted phosphoprotein 1 (SPP1, osteopontin) was validated by real time RT-PCR, Northern blot and Western blot analysis. Pathologically, CD68(+) macrophages and microglia expressed intense immunoreactivities for IFI30 and CD163 in NMO lesions, consisting of inflammatory demyelination, axonal loss, necrosis, cavity formation, and vascular fibrosis. KeyMolnet, a bioinformatics tool for analyzing molecular interaction on the curated knowledge database, suggested that the molecular network of up-regulated genes in NMO brain lesions involves transcriptional regulation by the nuclear factor-kappaB (NF-kappaB) and B-lymphocyte-induced maturation protein-1 (Blimp-1). These results suggest that profound activation of the macrophage-mediated proinflammatory immune mechanism plays a pivotal role in development of NMO brain lesions.
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PMID:Neuromyelitis optica/Devic's disease: gene expression profiling of brain lesions. 1841 Feb 76

A possible manifestation site for multiple sclerosis (MS) is the optic nerve which clinically presents as optic neuritis. In recent years studies have shown that MS patients have a reduced retinal nerve fiber layer (RNFL) thickness. The literature and own investigations could show that MS patients have a thinning of the RNFL (especially in temporal quadrants) with reduction of the total macular volume and this alteration is also correlated with the severity of the disease. Neuromyelitis optica (monophasic) shows an extreme thinning of the RNFL with severe reduction in vision. In neurodegenerative diseases, such as Parkinson's disease and Alzheimer's disease, a thinning of the RNFL is also present mostly in all quadrants. Amyotrophic lateral sclerosis and schizophrenia do not show alterations of the retinal layers with optical coherence tomography.
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PMID:[Quo vadis neuroimaging? The eye as window to the brain. Current options and future perspectives]. 2502 70