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Rando Porosk

Rando Porosk

University of Tartu, Estonia

Title: A metabolomic study of Wolfram syndrome 1

Biography

Rando porosk is a PhD student at the age of 28 from the University of Tartu (Estonia). He is a specialist of mass spectrometry and biochemistry in the 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 mass-spectrometry. He has published 2 papers in scientific journals and is a member of Estonian Biochemical Society.

Abstract

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 hearth 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.