Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Fiber types in human extraocular muscle (h-EOM) were examined immunohistochemically with antibodies against slow tonic (anti-ALD) and slow twitch (anti-SOL) myosins. Four types of muscle fiber in h-EOM were distinguishable according to their reactivities with these antibodies. Groups 1 and 2 fibers reacted with both antibodies, group 1 fibers showing stronger reactivity than group 2 fibers with anti-ALD. Group 3 fibers reacted only with anti-SOL. Group 4 fibers did not react with either antibody. The latter were the most common, and were the main fibers in both the peripheral (outer orbital) and central zones of h-EOM. The next most common were group 1 fibers, which were located mainly in the peripheral layer. Group 2 fibers were less common, but were the second most common type in the central layer. Group 3 fibers were only minor constituents. Multiple innervations were observed in some fibers of groups 1 and 2, and group 1 fibers were suggested to be slow tonic myofibers in h-EOM. These specific immunohistochemical and physiological features of h-EOM seem to be the basis of the low morbidity seen in the usual types of muscular dystrophy.
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PMID:Immunohistochemical study of fiber types in human extraocular muscles. 207 14

Glycine is an excitatory amino acid, a neurotransmitter for the brain. A recent experimental study by a 9.3T laboratory spectrometer identified the peak of pure glycine at 3.52 ppm, and in a clinical case this peak was demonstrated at 3.50 ppm by a 1.5 T clinical scanner. This study was undertaken to investigate the brain diseases having the glycine peak. An experiment with a 1.5 T clinical MRI unit was performed. Two grams of pure glycine was dissolved in 200 cc of distilled water and the solution was frozen, and proton MR spectroscopy (TR=1500 ms, TE=20 ms) was obtained. Nine patients with various diseases studied by two-dimensional chemical shift spectroscopy (hybrid CSI) with TR=1500 ms, and TE=40 ms are included in the study. Ten normal cases were available for comparison. In the experiment with the clinical MRI unit, the glycine peak was centered at 3.50 ppm. The disease processes associated with distinct glycine peaks at 3.50 ppm included infarction, high-grade astrocytoma, megalencephalic leukoencephalopathy with cysts, Leigh's disease, adrenoleukodystrophy, congenital muscular dystrophy, Rasmussen's encephalitis, gliosis in neuronal migrational disorder, and hamartoma in tuberous sclerosis. None of the control cases displayed a glycine peak. In conclusion, glycine has a peak centered at 3.50 ppm in in vivo environments. It is distinct from the myoinositol peak. Detection of glycine in a wide variety of brain diseases ranging from infarction, tumor, leukoencephalopathies, infection to gliosis likely reflects presence of excitotoxic brain damage or a disturbance of neurotransmitting mechanisms in these conditions.
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PMID:The glycine peak in brain diseases. 1263 15

The generation of disease-specific induced pluripotent stem cell (iPSC) lines from patients with incurable diseases is a promising approach for studying disease mechanisms and drug screening. Such innovation enables to obtain autologous cell sources in regenerative medicine. Herein, we report the generation and characterization of iPSCs from fibroblasts of patients with sporadic or familial diseases, including Parkinson's disease (PD), Alzheimer's disease (AD), juvenile-onset, type I diabetes mellitus (JDM), and Duchenne type muscular dystrophy (DMD), as well as from normal human fibroblasts (WT). As an example to modeling disease using disease-specific iPSCs, we also discuss the previously established childhood cerebral adrenoleukodystrophy (CCALD)- and adrenomyeloneuropathy (AMN)-iPSCs by our group. Through DNA fingerprinting analysis, the origins of generated disease-specific iPSC lines were identified. Each iPSC line exhibited an intense alkaline phosphatase activity, expression of pluripotent markers, and the potential to differentiate into all three embryonic germ layers: the ectoderm, endoderm, and mesoderm. Expression of endogenous pluripotent markers and downregulation of retrovirus-delivered transgenes [OCT4 (POU5F1), SOX2, KLF4, and c-MYC] were observed in the generated iPSCs. Collectively, our results demonstrated that disease-specific iPSC lines characteristically resembled hESC lines. Furthermore, we were able to differentiate PD-iPSCs, one of the disease-specific-iPSC lines we generated, into dopaminergic (DA) neurons, the cell type mostly affected by PD. These PD-specific DA neurons along with other examples of cell models derived from disease-specific iPSCs would provide a powerful platform for examining the pathophysiology of relevant diseases at the cellular and molecular levels and for developing new drugs and therapeutic regimens.
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PMID:Disease-specific induced pluripotent stem cells: a platform for human disease modeling and drug discovery. 2217 5