{"id":893,"date":"2019-01-11T15:05:01","date_gmt":"2019-01-11T15:05:01","guid":{"rendered":"http:\/\/confolab.sav.sk\/ovsb\/?page_id=893"},"modified":"2023-10-06T12:36:28","modified_gmt":"2023-10-06T12:36:28","slug":"vega-2-0121-19","status":"publish","type":"page","link":"https:\/\/confolab.sav.sk\/ovsb\/projekty\/ukoncene-projekty\/vega-2-0121-19\/","title":{"rendered":"VEGA 2\/0121\/19"},"content":{"rendered":"<p><script type=\"text\/javascript\">\n<!--\nfunction launch(newURL, newName, newFeatures, orgName) {\n  var remote = open(newURL, newName, newFeatures);\n  if (remote.opener == null)\n    remote.opener = window;\n  remote.opener.name = orgName;\n  return remote;\n}\n\nfunction launchRemote(name) {\n  var address =  name;\n  myRemote = launch(address ,\n                    \"Okno\",\n                    \"height=500, width=850, left=50, top=50, alwaysLowered=0, alwaysRaised=0, channelmode=0, dependent=0, directories=0, fullscreen=0, hotkeys=1, location=0, menubar=0, resizable=0, scrollbars=0, status=0, titlebar=1, toolbar=0, z-lock=0\",\n                    \"myWindow\");\n}\n\/\/ -->>\n<\/script><\/p>\n<h2>Dominantn\u00e9 mut\u00e1cie u Wolframovho syndr\u00f3mu: potenci\u00e1lne rozdielny mechanizmus \u00fa\u010dinku v porovnan\u00ed s reces\u00edvnymi mut\u00e1ciami &nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;<button onclick=\"goBack()\">Nasp\u00e4\u0165<\/button> <\/h2>\n<p><script>\t \t \nfunction goBack() { window.history.go(-1); }\t \t \n<\/script><\/p>\n<table border=\"0\" width=\"100%\" cellspacing=\"1\" cellpadding=\"2\">\n<tbody>\n<tr>\n<td>\n<h3>Ved\u00faci projektu: <a href=\"https:\/\/confolab.sav.sk\/ovsb\/pracovnici\/vyskumnici\/rndr-michal-cagalinec-phd\/\">Michal Cagalinec<\/a><\/h3>\n<h3>Trvanie: janu\u00e1r 2019 &#8211; december 2022<br \/>\nKoordinuj\u00faca organiz\u00e1cia: \u00dastav experiment\u00e1lnej endokrinol\u00f3gie BMC SAV, Bratislava<\/h3>\n<\/td>\n<\/tr>\n<tr>\n<td>\n<h3><span class=\"H3\">Anot\u00e1cia:<\/span><\/h3>\n<p>Wolframov syndr\u00f3m je zriedkav\u00e9 dedi\u010dn\u00e9 ochorenie sp\u00f4soben\u00e9 mut\u00e1ciami v g\u00e9ne Wolframin1. Prote\u00edn Wolframin1 (WFS1) sa nach\u00e1dza v membr\u00e1ne endoplazmatick\u00e9ho retikula (ER). WFS1 je vysoko exprimovan\u00fd v beta bunk\u00e1ch pankreasu, v mozgu a srdci. WFS1 m\u00e1 vz\u0165ah ku stresu ER a moduluje homeost\u00e1zu v\u00e1pnika v bunke. Okrem toho v neur\u00f3noch ovplyv\u0148uje dynamiku mitochondri\u00ed a tvorbu ATP. Hoci Wolframov syndr\u00f3m bol p\u00f4vodne klasifikovan\u00fd ako reces\u00edvne ochorenie, u sledovan\u00fdch pacientov sme identifikovali 2 nov\u00e9 mut\u00e1cie WFS1 suponuj\u00face dominantn\u00fd fenotyp. Cie\u013eom tohto projektu je preto presk\u00fama\u0165, \u010di ide skuto\u010dne o dominantn\u00e9 mut\u00e1cie a n\u00e1sledne sledova\u0165, \u010di s\u00fa signaliza\u010dn\u00e9 dr\u00e1hy dominantn\u00fdch  a reces\u00edvnychi mut\u00e1ci\u00ed rozdielne v zmysle ovplyvnenia stresu ER, metabolizmu v\u00e1pnika a dynamiky mitochondri\u00ed. Tieto parametre budeme testova\u0165 na \u013eudskom modeli nervov\u00fdch ako aj srdcov\u00fdch buniek pre pochopenie rozdielov mechanizmu \u00fa\u010dinku WFS1 v srdci v porovnan\u00ed s mozgom.<\/td>\n<\/tr>\n<tr>\n<td>\n<h3><span class=\"H3\">K\u013e\u00fa\u010dov\u00e9 slov\u00e1:<\/span><\/h3>\n<p>Wolframov syndr\u00f3m, Wolframin1, dominantn\u00e9 a reces\u00edvne mut\u00e1cie, v\u00e1pnikov\u00e1 homeost\u00e1za, stres endoplazmatick\u00e9ho retikula, mitochondri\u00e1lna dynamika<\/td>\n<\/tr>\n<tr>\n<td>\n<h3><span class=\"H3\">Ciele:<\/span><\/h3>\n<p>Hlavnou hypot\u00e9zou predkladan\u00e9ho projektu je, \u010di nami novo identifikovan\u00e9 mut\u00e1cie v g\u00e9ne WFS1 pozorovan\u00e9 u sledovan\u00fdch pacientov s Wolframov\u00fdm syndr\u00f3mom (WS) maj\u00fa dominantn\u00fd charakter a \u010di dominantn\u00e9 mut\u00e1cie maj\u00fa rozdielny mechanizmus \u00fa\u010dinku v porovnan\u00ed so s reces\u00edvnymi mut\u00e1ciami WFS1 \u010do sa t\u00fdka stresu endoplazmatick\u00e9ho retikula, homeost\u00e1zy v\u00e1pnika a mitochondri\u00e1lnej dynamiky a \u010di sa tieto jednotliv\u00e9 sign\u00e1lne dr\u00e1hy l\u00ed\u0161ia v nervov\u00fdch a srdcov\u00fdch bunk\u00e1ch.<\/p>\n<p>\u010ciastkov\u00e9 ciele:<\/p>\n<ul>\n<li> vytvori\u0165 transfekovate\u013en\u00e9 plazmidy nes\u00face dan\u00e9 nov\u00e9 mut\u00e1cie WFS1 N\u00e1sledne pl\u00e1nujeme tieto plazmidy exprimova\u0165 v bunkovom modeli neuron\u00e1lnych buniek, konkr\u00e9tne SHSY-5Y, ako aj v bunkovom modeli l\u00ednie H9C2 srdcov\u00fdch myoblastov a tieto nov\u00e9 mut\u00e1cie porovna\u0165 so zn\u00e1mymi dominantn\u00fdmi a reces\u00edvnymi mut\u00e1ciami <\/li>\n<li> stanovi\u0165 mieru stresu ER sp\u00f4soben\u00fa nov\u00fdmi a u\u017e publikovan\u00fdmi dominantn\u00fdmi mut\u00e1ciami WFS1 a porovna\u0165 mieru stresu ER s reces\u00edvnymi mut\u00e1ciami WFS1 <\/li>\n<li> kvantitat\u00edvne zhodnoti\u0165 \u00fa\u010dinok novo identifikovan\u00fdch mut\u00e1ci\u00ed WFS1 na homeost\u00e1zu v\u00e1pnika a a tento porovna\u0165 so zn\u00e1mymi dominantn\u00fdmi a reces\u00edvnymi mut\u00e1ciami WFS1 <\/li>\n<li> ur\u010di\u0165, \u010di a ako tieto novo identifikovan\u00e9 mut\u00e1cie WFS1 vpl\u00fdvaj\u00fa na frekvenciu f\u00fazi\u00ed mitochondri\u00ed a porovna\u0165 \u00fa\u010dinok dominantn\u00fdch a reces\u00edvnych mut\u00e1ci\u00ed WFS1 <\/li>\n<\/ul>\n<\/td>\n<\/tr>\n<tr>\n<td>\n<h3><span class=\"H3\">Publik\u00e1cie:<\/span><\/h3>\n<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<table class=\"list\" border=\"0\" width=\"100%\" cellspacing=\"0\" cellpadding=\"4\">\n<tbody>\n<tr>\n<td class=\"small\"><a href='javascript:launchRemote(\"https:\/\/pubmed.ncbi.nlm.nih.gov\/34118053\/\")'><img decoding=\"async\" loading=\"lazy\" width=\"75\" height=\"104\" class=\"alignnone\" src=\"https:\/\/confolab.sav.sk\/ovsb\/wp-content\/uploads\/Mitochondrial_Medicine.jpg\"><\/a><\/td>\n<td class=\"two\">Marcek Chorvatova A, <strong>Cagalinec M<\/strong>, Chorvat D Jr (2021): <a href='javascript:launchRemote(\"https:\/\/pubmed.ncbi.nlm.nih.gov\/34118053\/\")'>Time-resolved imaging of mitochondrial flavin fluorescence and its applications for evaluating the oxidative state in living cardiac cells<\/a>. <i>Mitochondrial Medicine. Methods in Molecular Biology<\/i>, vol 2275, chapter 26: 403-414. Humana, New York, NY. Volume 1: Targeting Mitochondria, Weissig V., Edeas M. (eds), ISBN 978-1-0716-1262-0, doi: 10.1007\/978-1-0716-1262-0_26.<\/td>\n<\/tr>\n<tr>\n<td class=\"small\"><a href='javascript:launchRemote(\"https:\/\/pubmed.ncbi.nlm.nih.gov\/33084603\/\")'><img decoding=\"async\" loading=\"lazy\" width=\"75\" height=\"104\" class=\"alignnone\" src=\"https:\/\/confolab.sav.sk\/ovsb\/wp-content\/uploads\/GPB-1.jpg\"><\/a><\/td>\n<td class=\"two\">Kurekova S, Plaas M, <strong>Cagalinec M<\/strong> (2020): <a href='javascript:launchRemote(\"https:\/\/pubmed.ncbi.nlm.nih.gov\/33084603\/\")'>Short Communication: Lack of functional wolframin causes drop in  plasmalemmal sodium-calcium exchanger type  1 expression at  early stage in  rat model of  Wolfram syndrome<\/a>. <i>Gen Physiol Biophys<\/i> 39: 499\u2013503 doi: 10.4149\/gpb_2020017.<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n","protected":false},"excerpt":{"rendered":"<p>Dominantn\u00e9 mut\u00e1cie u Wolframovho syndr\u00f3mu: potenci\u00e1lne rozdielny mechanizmus \u00fa\u010dinku v porovnan\u00ed s reces\u00edvnymi mut\u00e1ciami &nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;Nasp\u00e4\u0165 Ved\u00faci projektu: Michal Cagalinec Trvanie: janu\u00e1r 2019 &#8211; december 2022&#8230;<span class=\"excerpt_more\"><a href=\"https:\/\/confolab.sav.sk\/ovsb\/projekty\/ukoncene-projekty\/vega-2-0121-19\/\">\u010d\u00edta\u0165 \u010falej &raquo;<\/a><\/span><\/p>\n","protected":false},"author":1,"featured_media":0,"parent":117,"menu_order":60,"comment_status":"closed","ping_status":"closed","template":"","meta":[],"_links":{"self":[{"href":"https:\/\/confolab.sav.sk\/ovsb\/wp-json\/wp\/v2\/pages\/893"}],"collection":[{"href":"https:\/\/confolab.sav.sk\/ovsb\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/confolab.sav.sk\/ovsb\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/confolab.sav.sk\/ovsb\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/confolab.sav.sk\/ovsb\/wp-json\/wp\/v2\/comments?post=893"}],"version-history":[{"count":12,"href":"https:\/\/confolab.sav.sk\/ovsb\/wp-json\/wp\/v2\/pages\/893\/revisions"}],"predecessor-version":[{"id":2558,"href":"https:\/\/confolab.sav.sk\/ovsb\/wp-json\/wp\/v2\/pages\/893\/revisions\/2558"}],"up":[{"embeddable":true,"href":"https:\/\/confolab.sav.sk\/ovsb\/wp-json\/wp\/v2\/pages\/117"}],"wp:attachment":[{"href":"https:\/\/confolab.sav.sk\/ovsb\/wp-json\/wp\/v2\/media?parent=893"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}