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Tufts OCW material is licensed under a Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported License. In a cross-institutional collaboration, scientists of Helmholtz Zentrum MA?nchen have revealed the associations between individual genetic variations and disease-relevant metabolic changes. Among the 37 genetically defined metabotypes described in the study are numerous changes that are associated with disA­eases of the metabolism, the cardiovascular system, the kidney or the bladder. In a large-scale study in collaboration with colleagues from other German and international research institutes, the researchers used two established methods of analysis a€“ genome-wide association studies (GWAS) and metabolomics. Combining genetics and metabolomics makes it possible to detect the effects of genetic risk factors on the metabolism, directly in the biological context. The English neologism a€“ omics, in German -omik, is a term used in biology for the study of an entire class of molecules.
The diagnosis is based on history of the disease (white finger during cold exposure), younger age, sex (female), the absence of lesions during the clinical examination and additional tests and the absence of other causes (drugs, professional context). The less severe forms of the disease can be treated by a protection against the cold, whereas when the disease is more severe, some treatments can be prescribed by doctors (vasodilators, calcium channel blockers).


Treatment involves either treatment of the disease in question is by stopping the offending drug. In healthy volunteers, exposure to vibration, even if it does not touch a hand, can occur a phenomenon of vasospasm at the four corners. The peripheral nervous system informs the central nervous system of the presence of vibration and it responds by releasing a potent vasoconstrictor molecule, the endothelin 1.
Copyright © 2012 Rayur, All trademarks are the property of the respective trademark owners. Normal hemoglobin range – buzzle, Normal hemoglobin range the hemoglobin level is an important indicator of the health condition of a person. Glycosylated hemoglobin test – definition of glycosylated, Glycosylated hemoglobin test definition. The researchers identified a number of previously unknown loci that are associated with changes in the metabolism and also with typical complex chronic diseases such as cardiovascular disease and type 2 diabetes. The researchers used GWAS to search for genetic variants in the DNA of 2,820 test subjects. Thus, new findings about the causes and course of specific diseases such as diabetes can be made, and new markers for the early detection of diseases, new approaches to treatment and new drugs can be developed.


Examples are a€?genomicsa€? for the study of all genes and genetic elements, a€?proteomicsa€? for the study of all proteins in a cell or tissue and a€?metabolomicsa€? for the study of the entirety of metabolites.
Using metabolomics they investigated the metabolic profile of the same group of test subjects. Through the combination of these two methods the associations between genetic variations and defined disease-relevant metabolic changes could be revealed.
State-of-the art chromatographic and spectroscopic methods, applied to more than 250 metabolites and more than 60 disease-related metabolic pathways, led to the identification of 37 loci, many of which previously had not been associated with metabolic disruptions.
In most cases the affected gene encoded a protein that is involved in the mutated metabolic pathway. The genetically determined metabotypes (GDMs) identified in the study included GDMs associated with cardiovascular diseases, renal disorders, type 2 diabetes mellitus, gout, Crohna€™s disease and various types of cancer.



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