GSE130433 The vitamin B12 processing enzyme, mmachc, is essential for zebrafish survival, growth and retinal morphology

Contributors : Jennifer Sloan ; Abdel Elkahloun ; Charles VendittiSeries Type : Expression profiling by arrayOrganism : Danio rerioCobalamin C deficiency (cblC), the most common inborn error of intracellular cobalamin metabolism, is caused by mutations in MMACHC, a gene responsible for the processing and intracellular trafficking of vitamin B12. This recessive disorder is characterized by a failure to metabolize cobalamin into adenosyl- and methylcobalamin, which results in the biochemical perturbations of methylmalonic acidemia, hyperhomocysteinemia, and hypomethioninemia caused by impaired activity of the downstream enzymes, methylmalonyl-CoA mutase and methionine synthase. Cobalamin C deficiency can be accompanied by a wide spectrum of clinical manifestations, including progressive blindness, and in mice, manifests with very early embryonic lethality. Because zebrafish harbor a full complement of cobalamin metabolic enzymes, we used genome editing to study loss of mmachc function. mmachc homozygotes survived the embryonic period but perished in early juvenile life. The mutants displayed metabolic and clinical features of cblC deficiency including methylmalonic acidemia, severe growth retardation, and lethality. Clinical and metabolic parameters improved when the mutants were raised in water supplemented with small molecules used to treat patients, including hydroxocobalamin, methylcobalamin, methionine, and betaine. Furthermore, mmachc mutants, some bred to express rod and...
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Expression profiling by array Danio rerio Source Type: research

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Today, The Department of Justice issued an announcement that was “the first ever criminal action against an EHR vendor.” Criminal action The core of the criminal action was something inevitable:  the tension between better health and better profit.  Here’s what I saw … all of which caused me to be not-so-surprised today when the news broke. In 2008 I was the CMIO at Allscripts.  Much of my work was focused on how our customers could use our products to improve the health of our patients.  We implemented clinical practice guidelines in the software as a way to help clinical teams...
Source: Docnotes - Category: Primary Care Authors: Tags: Uncategorized Source Type: blogs
Publication date: Available online 26 January 2020Source: Veterinary Immunology and ImmunopathologyAuthor(s): Melissa H. Siard-Altman, Patricia A. Harris, Amber D. Moffett-Krotky, Joanne L. Ireland, Alejandra Betancourt, Virginia D. Barker, Kellie E. McMurry, Stephanie E. Reedy, Amanda A. AdamsAbstractSimilarly to aged humans, senior horses (≥20 years) exhibit chronic low-grade inflammation systemically, known as inflamm-aging. Inflamm-aging in the senior horse has been characterized by increased circulating inflammatory cytokines as well as increased inflammatory cytokine production by lymphocytes and monocytes in resp...
Source: Veterinary Immunology and Immunopathology - Category: Veterinary Research Source Type: research
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Source: RSC - Analyst latest articles - Category: Chemistry Authors: Source Type: research
(Natural News) Years of research have established a positive collaboration between estrogen and vitamin D to improve bone health. Now, recent research suggests that this dynamic duo could also play a role in staving off metabolic syndrome in postmenopausal women. Metabolic syndrome is described as a cluster of conditions – such as obesity, high blood sugar and...
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Publication date: Available online 26 January 2020Source: Journal of Hazardous MaterialsAuthor(s): Martina Kolackova, Pavel Chaloupsky, Natalia Cernei, Borivoj Klejdus, Dalibor Huska, Vojtech AdamAbstractStudying stress pathways on the level of secondary metabolites that are found in very small concentration in the cells is complicated. In the algae, the role of individual metabolites (such as carotenoids, phenolic compounds, organic acids, and vitamins) and miRNAs that participate in plant’s defence are very poorly understood during stressful conditions. Therefore, in the present experiment, the model organism Chlam...
Source: Journal of Hazardous Materials - Category: Environmental Health Source Type: research
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Source: - Category: Research Source Type: clinical trials
Conditions:   Deep Retinal Capillary Ischemia;   Paracentral Acute Middle Maculopathy;   Acute Macular Neuroretinopathy Interventions:   Device: Electromagnetic stimulation;   Biological: Platelet rich plasma Sponsor:   Ankara Universitesi Teknokent Completed
Source: - Category: Research Source Type: clinical trials
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Source: IPS Inter Press Service - Health - Category: International Medicine & Public Health Authors: Tags: Africa Biodiversity Development & Aid Economy & Trade Environment Featured Food & Agriculture Food Sustainability Headlines Health Poverty & SDGs TerraViva United Nations Source Type: news
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Source: Daily Express - Health - Category: Consumer Health News Source Type: news
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Source: Clinical Oral Investigations - Category: Dentistry Source Type: research
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