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A Metabolomic Study Of Wolfram Syndrome 1 | 67097
ISSN: 2157-7064

Journal of Chromatography & Separation Techniques
Open Access

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A metabolomic study of Wolfram syndrome 1

4th World Congress on MASS SPECTROMETRY

Rando Porosk

University of Tartu, Estonia

Posters & Accepted Abstracts: J Chromatogr Sep Tech

DOI: 10.4172/2157-7064-C1-026

Wolfram syndrome 1 is a rare autosomal recessive neurodegenerative disease characterized by diabetes insipidus, diabetes mellitus, optic atrophy and deafness. Mutations in the WFS1 gene encoding wolframin glycoprotein lead to endoplasmic reticulum stress and unfolded protein response in cells, but the pathophysiology at organism level is poorly understood. In this study, several organs (heart, liver, kidneys and pancreas) and bodily fluids (trunk blood and urine) of 2- and 6-months old Wfs1 knock-out, heterozygote and wild-type mice were studied by untargeted and targeted metabolomics using LC-MS/MS mass-spectrometry. The key findings are significant perturbations in protein metabolism in pancreas and heart before clinical signs, glycosuria that precedes hyperglycemia and implies a kidney dysfunction prior the onset of classical diabetic nephropathy, liver and blood hypouricemia, which in time turns to hyperuricemia.

Rando Porosk is a PhD student at University of Tartu, Estonia. He is a Specialist of Mass Spectrometry and Biochemistry at Institute of Biomedicine and Translational Medicine, Department of Biochemistry. Being part of the medical metabolomics research team, he is focusing on “Antioxidative peptides, oxidative stress and massspectrometry”. He has published two papers in scientific journals and is a member of Estonian Biochemical Society.

Email: [email protected]