同: mutase

WordNet

the 3rd letter of the Roman alphabet (同)c
(music) the keynote of the scale of C major
a general-purpose programing language closely associated with the UNIX operating system
an enzyme that catalyzes its substrate to an isomeric form

PrepTutorEJDIC

carbonの化学記号
cobaltの化学記号

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1. 脂質およびプリン代謝障害による代謝性ミオパチー metabolic myopathies caused by disorders of lipid and purine metabolism
2. ペルオキシソーム病 peroxisomal disorders
3. 関節リウマチの病因 pathogenesis of rheumatoid arthritis
4. 先天性代謝異常：分類 inborn errors of metabolism classification
5. HELLP症候群 hellp syndrome

English Journal

A Primary Study on Down-Regulated miR-9-1 and Its Biological Significances in Methylmalonic Acidemia.

Li Y1, Peng T, Wang X, Duan R, Gao H, Guan W, Teng J, Jia Y.Author information 1Department of Neurology, First Affiliated Hospital, Zhengzhou University, Zhengzhou, 450052, China.AbstractMethylmalonic acidemia (MMA) is a metabolic disorder, which is caused by a deficiency of the mitochondrial enzyme methylmalonyl-CoA mutase. MMA diagnosis is dependent on the method of gas chromatography-mass spectrometry, which is expensive, complicated, and time consuming. Currently, microRNAs (miRNAs) have gained considerable interest for its function as a novel class of non-invasive and sensitive biomarkers for the diagnosis of diseases. However, there has been no related report regarding its role in MMA. Our study first detected differentially expressed microRNAs in MMA and found that the expression of miR-9-1 was significantly down-regulated and changed sensitively after VitB12 treatment. Furthermore, we confirmed that miR-9-1 was able to suppress neuronal apoptosis induced by methylmalonate. Taken together, our results suggested that miR-9-1 may act as a potential biomarker for the diagnosis and monitoring of changes in MMA and provide new insights into the pathogenesis of MMA.
Journal of molecular neuroscience : MN.J Mol Neurosci.2014 Jan 4. [Epub ahead of print]
Methylmalonic acidemia (MMA) is a metabolic disorder, which is caused by a deficiency of the mitochondrial enzyme methylmalonyl-CoA mutase. MMA diagnosis is dependent on the method of gas chromatography-mass spectrometry, which is expensive, complicated, and time consuming. Currently, microRNAs (miR
PMID 24390963

Renal involvement in a patient with cobalamin A type (cblA) methylmalonic aciduria: a 42-year follow-up.

Haarmann A1, Mayr M, Kölker S, Baumgartner ER, Schnierda J, Hopfer H, Devuyst O, Baumgartner MR.Author information 1Division of Metabolism and Children's Research Center, University Children's Hospital, Zurich, Switzerland; Institute of Physiology, University of Zurich, Zurich, Switzerland; Center for Integrative Human Physiology, University of Zurich, Switzerland; radiz - Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases, University of Zurich, Switzerland.AbstractChronic renal failure is a well-known long-term complication of methylmalonic aciduria (MMA-uria), occurring even under apparently optimal metabolic management. The onset of renal dysfunction seems to be dependent on the type of defect and vitamin B12-responsiveness. We report on a patient with a vitamin B12-responsive cobalamin A type (cblA) MMA-uria caused by a homozygous stop mutation (p.R145X) in the cobalamin A gene (MMAA). She was diagnosed with chronic kidney disease (CKD) stage III at the age of 12 years. Following re-evaluation, the patient received vitamin B12 (hydroxocobalamin) treatment, resulting in a significant decrease in the concentration of methylmalonic acid (MMA) in urine and plasma. Until age 29 years glomerular filtration rate remained stable probably due to hydroxocobalamin treatment slowing down progression to end-stage renal failure. Kidney biopsies showed non-specific manifestations of chronic interstitial inflammation. The patient received a renal transplant at age 35 years. Under continuous treatment with hydroxocobalamin there is no evidence of kidney damage due to MMA-uria until the last follow-up 6 years after transplantation. This case report illustrates (i) a long-term follow-up of a patient with MMA-uria due to cblA deficiency, (ii) the involvement of the kidney as a target organ and (iii) the importance of early and adequate vitamin B12 substitution in responsive patients. Further investigation will be necessary to prove the protective effect of hydroxocobalamin in the kidney in vitamin B12-responsive patients.
Molecular genetics and metabolism.Mol Genet Metab.2013 Dec;110(4):472-6. doi: 10.1016/j.ymgme.2013.08.021. Epub 2013 Sep 17.
Chronic renal failure is a well-known long-term complication of methylmalonic aciduria (MMA-uria), occurring even under apparently optimal metabolic management. The onset of renal dysfunction seems to be dependent on the type of defect and vitamin B12-responsiveness. We report on a patient with a vi
PMID 24095221

First biosynthetic pathway of 1-hepten-3-one in Iporangaia pustulosa (Opiliones).

Rocha DF1, Wouters FC, Machado G, Marsaioli AJ.Author information 1Chemistry Institute, State University of Campinas, POB 6154, 13083-970 Campinas, SP, Brazil.AbstractArthropods produce a great variety of natural compounds, many of which have unexplored biosynthesis. Among the armored harvestmen (Arachnida: Opiliones) of the suborder Laniatores, the defensive gland exudates contain vinyl ketones and other constituents of supposed polyketide origin. We have studied the biosynthesis of 1-hepten-3-one in the Neotropical harvestman Iporangaia pustulosa by feeding individuals with ¹³C-labeled precursors, demonstrating its mixed acetate/propionate origin. ¹³C NMR spectroscopy showed an unusual labeling pattern suggesting different propionate sources for starting and extender units. Our analysis also indicates the presence of methylmalonyl-CoA mutase, converting acetate into propionyl-CoA via succinyl-CoA, together with other C₃ unit routes. This is the first biosynthetic study of alkyl vinyl ketones in arthropods. Our results shed light on the origin and diversification of chemical compounds in a major arthropod group.
Scientific reports.Sci Rep.2013 Nov 6;3:3156. doi: 10.1038/srep03156.
Arthropods produce a great variety of natural compounds, many of which have unexplored biosynthesis. Among the armored harvestmen (Arachnida: Opiliones) of the suborder Laniatores, the defensive gland exudates contain vinyl ketones and other constituents of supposed polyketide origin. We have studie
PMID 24193576