{"id":4372,"date":"2019-05-19T23:23:55","date_gmt":"2019-05-19T20:23:55","guid":{"rendered":"https:\/\/mereusanatosi.ro\/wp\/?p=4372"},"modified":"2019-05-19T23:23:58","modified_gmt":"2019-05-19T20:23:58","slug":"mutatiile-genei-sgms2-o-posibila-cauza-a-aparitiei-osteoporozei","status":"publish","type":"post","link":"https:\/\/mereusanatosi.ro\/wp\/2019\/05\/19\/mutatiile-genei-sgms2-o-posibila-cauza-a-aparitiei-osteoporozei\/","title":{"rendered":"Muta\u021biile genei SGMS2, o posibil\u0103 cauz\u0103 a apari\u021biei osteoporozei"},"content":{"rendered":"\n<figure class=\"wp-block-image\"><img loading=\"lazy\" width=\"800\" height=\"445\" src=\"https:\/\/mereusanatosi.ro\/wp\/wp-content\/uploads\/2019\/05\/SGMS2-800x445.jpg\" alt=\"\" class=\"wp-image-4373\" srcset=\"https:\/\/mereusanatosi.ro\/wp\/wp-content\/uploads\/2019\/05\/SGMS2-800x445.jpg 800w, https:\/\/mereusanatosi.ro\/wp\/wp-content\/uploads\/2019\/05\/SGMS2-300x167.jpg 300w, https:\/\/mereusanatosi.ro\/wp\/wp-content\/uploads\/2019\/05\/SGMS2-768x427.jpg 768w, https:\/\/mereusanatosi.ro\/wp\/wp-content\/uploads\/2019\/05\/SGMS2.jpg 1067w\" sizes=\"(max-width: 800px) 100vw, 800px\" \/><figcaption>Surs\u0103 foto: http:\/\/doctormurray.com<\/figcaption><\/figure>\n\n\n\n<p>Un grup de\ncercet\u0103tori condus de dr. Outi M\u00e4kitie din cadrul Universit\u0103\u021bii Helsinki a\nidentificat muta\u021bii \u00eentr-o anumit\u0103 gen\u0103 care poate fi responsabil\u0103 de apari\u021bia\nosteoporozei. &nbsp;&nbsp;<\/p>\n\n\n\n<p>&#8220;Datorit\u0103\ncercet\u0103rilor am\u0103nu\u021bite, am reu\u0219it s\u0103 identific\u0103m un defect de genotip care st\u0103\nla baza osteoporozei. \u00cen colaborare cu cercet\u0103torii olandezi \u0219i americani, am\ng\u0103sit patru familii cu muta\u021bii \u00een aceea\u0219i gen\u0103, \u00een care to\u021bi membrii sufereau\nde osteoporoz\u0103&#8221;, explic\u0103 dr. M\u00e4kitie. <\/p>\n\n\n\n<p>Ace\u0219tia au\nidentificat muta\u021bii ale genei SGMS2, care codific\u0103 o enzim\u0103 implicat\u0103 \u00een\nmetabolizarea sphingolipidelor. Aceste muta\u021bii provoac\u0103 modific\u0103ri ale func\u021biei\nenzimatice \u0219i perturb\u0103 metabolismul osos. Cercet\u0103torii au observat c\u0103 to\u021bi\npurt\u0103torii genei mutante au suferit fracturi la nivelul membrelor \u0219i coloanei\nvertebrale. Anumi\u021bi subiec\u021bi au prezentat, de asemenea, simptome neurologice, cum\nar fi paralizia nervului facial, una dintre tr\u0103s\u0103turile distinctive ale\nosteoporozei. <\/p>\n\n\n\n<p>Examinarea\nprobelor osoase colectate de la trei pacien\u021bi a demonstrat c\u0103 \u021besutul osos al\npersoanelor incluse \u00een studiu fost diferit de \u021besutul osos normal. S-a\nconstatat c\u0103 num\u0103rul de celule osoase a fost atipic \u0219i mineralizarea osoas\u0103 a\nfost perturbat\u0103. Modific\u0103rile au fost deosebit de clare \u00een osul cortical, stratul\nexterior al osului (regiunea cu cea mai abundent\u0103 expresie a genei SGMS2). <\/p>\n\n\n\n<p>Descoperirea\nacestei muta\u021bii este foarte important\u0103, deoarece cre\u0219te semnificativ \u00een\u021belegerea\nmecanismelor care stau la baza osteoporozei \u0219i deschide noi c\u0103i pentru\ndezvoltarea unor terapii mai avansate. &nbsp;&nbsp;<\/p>\n\n\n\n<p>Surs\u0103: https:\/\/www.news-medical.net<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Un grup de cercet\u0103tori condus de dr. Outi M\u00e4kitie din cadrul Universit\u0103\u021bii Helsinki a identificat muta\u021bii \u00eentr-o anumit\u0103 gen\u0103 care<\/p>\n","protected":false},"author":1,"featured_media":4373,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":[],"categories":[101,837,64,11],"tags":[2032,2035,2033,2034],"_links":{"self":[{"href":"https:\/\/mereusanatosi.ro\/wp\/wp-json\/wp\/v2\/posts\/4372"}],"collection":[{"href":"https:\/\/mereusanatosi.ro\/wp\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/mereusanatosi.ro\/wp\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/mereusanatosi.ro\/wp\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/mereusanatosi.ro\/wp\/wp-json\/wp\/v2\/comments?post=4372"}],"version-history":[{"count":1,"href":"https:\/\/mereusanatosi.ro\/wp\/wp-json\/wp\/v2\/posts\/4372\/revisions"}],"predecessor-version":[{"id":4374,"href":"https:\/\/mereusanatosi.ro\/wp\/wp-json\/wp\/v2\/posts\/4372\/revisions\/4374"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/mereusanatosi.ro\/wp\/wp-json\/wp\/v2\/media\/4373"}],"wp:attachment":[{"href":"https:\/\/mereusanatosi.ro\/wp\/wp-json\/wp\/v2\/media?parent=4372"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/mereusanatosi.ro\/wp\/wp-json\/wp\/v2\/categories?post=4372"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/mereusanatosi.ro\/wp\/wp-json\/wp\/v2\/tags?post=4372"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}