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Genetic Predisposition for Type 1 Diabetes Mellitus - The Role of Endoplasmic Reticulum Stress in Human Disease Etiopathogenesis The increasing incidence of diabetes mellitus worldwide has prompted a rapid growth in the pace of scientific discovery of the mechanisms involved in the etiopathogenesis of this multifactorial disease. Accumulating evidence suggests that endoplasmic reticulum stress plays a role in the pathogenesis of diabetes, contributing to pancreatic beta cell loss and insulin resistance. Wolfram syndrome is an autosomal recessive neurodegenerative disorder accompanied by insulin-dependent diabetes mellitus and progressive optic atrophy. The pathogenesis of this rare neurodegenerative genetic disease is unknown. A Wolfram gene (WFS1 locus) has recently been mapped to chromosome 4p16.1, but there is evidence for locus heterogeneity, including the mitochondrial genome deletion. Recent positional cloning led to identification of the second WFS locus, a mutation in the CISD2 gene, which encodes an endoplasmic reticulum intermembrane small protein. Our results were obtained by the analysis of a families belonging to specific population, affected by Wolfram syndrome. We have identified the newly diagnosed genetic alteration of WFS1 locus, a double non-synonymous and frameshift mutation, providing further evidence for the genetic heterogeneity of this syndrome. Newly identified mutations may contribute to the further elucidation of the pathogenesis of Wolfram syndrome, as well as of the complex mechanisms involved in diabetes mellitus development. Genetska Predispozicija za Tip 1 Diabetes Mellitusa - Uloga Stresa Endoplazmatskog Retikuluma u Etiopatogenezi Oboljenja Čoveka Stalni porast incidence diabetes mellitusa u svetu i u našoj zemlji, predstavlja značajan stimulans za ubrzanje naučnih otkrića koja doprinose uvidu u kompleksne mehanizme uključene u etiopatogenezu ovog multifaktorijalnog oboljenja. Brojna istraživanja ukazuju da je stres endoplazmatskog retikuluma značajan faktor u patogenezi dijabetesa, koji doprinosi apoptozi beta ćelija pankreasa, kao i rezistenciji na insulin. Wolfram sindrom predstavlja autozomno recesivno neurodegenerativno oboljenje, koje karakteriše razvoj insulin-zavisnog diabetes mellitusa i progresivne atrofije optičkog nerva. Wolfram sindromje retko neurodegenerativno genetsko oboljenje, nepoznate patogeneze. Gen za wolframin (WFS1 lokus) mapiran je na hromozomu 4p16.1, međutim postoje značajni dokazi za genetsku heterogenost, uz prisustvo delecija u mitohondrijalnom genomu kod malog procenta pacijenata. Analize sprovedene primenom strategije pozicionalnog kloniranja dovele su do identifikacije drugog lokusa (WFS2) i uzročne mutacije CISD2 gena za WFS2, na hromozomu 4q24, koji kodira mali intermembranski protein lokalizovan u endoplazmatskom retikulumu. Naši rezultati su dobijeni analizom porodica koje pripadaju specifičnoj populaciji, sa članovima obolelim od Wolframovog sindroma (WFS1). Identifikovali smo novu genetsku alteraciju WFS1 gena, dvostruku »nonsynonymous & frameshift« mutaciju, kao dodatnu potvrdu genetske heterogenosti ovog sindroma. Novoidentifikovane mutacije doprinose razumevanju patogeneze Wolfram sindroma, kao i utvrđivanju kompleksnih mehanizama uključenih u nastanak diabetes mellitusa.