Reference:
73430
Abstract:
The study design is the natural extension of our previous research works that had already been supported (www.humangenom.hu, www.eurosca.org). It is clear nowadays, that the functions of the carnitine are not restricted to the role of the oxidation of the long-chain fatty acids. The main direction of the planned research is the investigation of the functional variants of located in the 5q31 cytokine cluster: there are data showing, that susceptibility genes of inflammatory bowel disease and rheumatoid arthritis are located in this region. The genes encoding the OCTN1 and OCTN2 carnitine transporters are also located in this region. The naturally occurring variants of the SCL22A4 and SLC22A5, encoding the above transporters, can affect the function of the genes, therefore the gene products, the mature transporters can differ from each other and can affect thereby at metabolite level the carnitine homeostasis. The neighboring genes are in linkage disequilibrium. The genes of the 5031 cluster can have susceptibility nature for some multigenic diseases, but also can have effect on the carnitine homeostasis thereby. The current grant application includes the functional assessments of the susceptibility variants: we will study also the possible metabolic associations for the carnitine esters. The carnitine ester profile including 20-24 esters will be investigated by ESI triple quadrupol mass spectrometry. For genetic studies a strong background is our available Biobank, which is a part of the national and an EU consortium (www.biobank.hu, www.biobanks.eu ). The data obtained after successful conduction of the current study might provide also information for possible rationale of use carnitine in the polygenic disease studied.
PROJECT DETAILS
beginning: 2008.
end: 2012.
Country of research: Hungary
Counry of funding source: Hungary
Funding organization: Hungarian Scientific Research Fund
Financing: NATIONAL FUNDINGS – 67 359 €