{"id":4296,"date":"2016-11-17T21:54:32","date_gmt":"2016-11-17T21:54:32","guid":{"rendered":"http:\/\/doctorexpres.ro\/?p=4296"},"modified":"2016-11-17T21:55:32","modified_gmt":"2016-11-17T21:55:32","slug":"geneticienii-au-aflat-cum-apare-sindromul-parului-incilcit","status":"publish","type":"post","link":"http:\/\/doctorexpres.ro\/index.php\/2016\/11\/17\/geneticienii-au-aflat-cum-apare-sindromul-parului-incilcit\/","title":{"rendered":"Geneticienii au aflat cum apare sindromul p\u0103rului \u00eenc\u00eelcit"},"content":{"rendered":"<p style=\"text-align: justify;\">Unii copii au p\u0103rul at\u00eet de \u00eenc\u00eelcit \u00eenc\u00eet cu greu poate fi piept\u0103nat. Oric\u00eet ar \u00eencerca p\u0103rin\u0163ii, nu pot b\u0103ga peria \u00een podoaba capilar\u0103. Pu\u0163in\u0103 lume \u015ftie c\u0103 aceast\u0103 problem\u0103 bizar\u0103 \u0163ine de s\u0103n\u0103tate, iar afec\u0163iunea se nume\u015fte sindromul p\u0103rului \u00eencurcat.<!--more--> Cercet\u0103torii de la Universit\u0103\u021bile din Bonn \u0219i Toulouse au identificat muta\u0163ii \u00een trei gene responsabile pentru acest <a href=\"http:\/\/doctorexpres.ro\/index.php\/2016\/11\/04\/cum-stii-daca-traiesti-intr-o-cladire-bolnava\/\" target=\"_blank\">sindrom<\/a>. Rezultatele au fost publicate \u00een American Journal of Human Genetics.<br \/>\nCei afecta\u0163i de acest sindrom ciudat au <a href=\"http:\/\/doctorexpres.ro\/index.php\/2016\/10\/10\/balsamuri-naturale-care-indreapta-parul\/\" target=\"_blank\">p\u0103rul foarte cre\u021b<\/a>, uscat, blond, cu o str\u0103lucire caracteristic\u0103. Problema e mai pronun\u021bat\u0103 \u00een copil\u0103rie, p\u00een\u0103 la 12 ani, atenu\u00eendu-se de-a lungul timpului. La maturitate, p\u0103rul poate ajunge normal. P\u00een\u0103 \u00een prezent, nu s-au identificat cauzele acestui sindrom, aceasta deoarece fenomenul e destul de rar.<br \/>\nA fost descris \u00een literatura de specialitate pentru prima dat\u0103 \u00een 1973, \u00een Fran\u0163a. De atunci, au fost documentate \u00een \u00eentreaga lume aproximativ o sut\u0103 de cazuri. \u201e<em>Presupunem c\u0103 exist\u0103 mult mai multe persoane afectate. Cei care sufer\u0103 de sindromul <a href=\"http:\/\/doctorexpres.ro\/index.php\/2016\/11\/09\/6-metode-care-ajuta-parul-sa-creasca-mai-repede\/\" target=\"_blank\">p\u0103rului<\/a> \u00eencurcat nu merg la\u00a0 medic sau la spital<\/em>\u201d, spune prof. Regina Betz de la Institutul de Genetica Uman\u0103 al Universit\u0103\u0163ii din Bonn. Este cunoscut faptul c\u0103 anomalia apare mai frecvent \u00een unele familii, de aceea se crede c\u0103 are <a href=\"http:\/\/doctorexpres.ro\/index.php\/2016\/08\/08\/dopajul-viitorului-manipularea-genetica\/\" target=\"_blank\">cauze genetice<\/a>.<\/p>\n<p style=\"text-align: justify;\">Oamenii de \u015ftiin\u0163\u0103 au g\u0103sit muta\u0163ii \u00een trei gene implicate \u00een formarea firului\u00a0 de p\u0103r: PADI3, TGM3 \u0219i TCHH. Primele dou\u0103 con\u021bin instruc\u021biunile de asamblare pentru enzime. \u00cen p\u0103rul s\u0103n\u0103tos, proteinele TCHH s\u00eent unite \u00eentre ele cu fire extrem de fine de keratin\u0103, responsabile pentru forma \u0219i structura p\u0103rului. Dac\u0103 fie \u0219i numai una dintre cele trei componente nu este func\u021bional\u0103, s\u00eent afectate structura \u0219i stabilitatea <a href=\"http:\/\/doctorexpres.ro\/index.php\/2016\/09\/26\/de-ce-nu-e-bine-sa-adormi-cu-parul-ud\/\" target=\"_blank\">p\u0103rului<\/a>. La \u015foarecii la care genele PADI3 sau TGM3 s\u00eent defecte, apar anomalii caracteristice ale bl\u0103nii, foarte asem\u0103n\u0103toare cu fenotipul uman.<br \/>\nUnele anomalii ale p\u0103rului s\u00eent asociate cu boli severe, care uneori se manifest\u0103 mai t\u00eerziu \u00een via\u021b\u0103. Din fericire, sindromul p\u0103rului \u00eenc\u0103lcit se manifest\u0103 f\u0103r\u0103 alte deficien\u021be de s\u0103n\u0103tate. Cel mult provoac\u0103 <a href=\"http:\/\/doctorexpres.ro\/index.php\/2016\/09\/27\/7-indicii-ca-esti-stresat\/\" target=\"_blank\">stres<\/a>.<br \/>\nRegina Betz e \u00eenc\u00eentat\u0103: \u201e<em>\u00cen sf\u00eer\u015fit putem diagnostica sindromul de p\u0103r \u00eencurcat pe baza unor <a href=\"http:\/\/doctorexpres.ro\/index.php\/2016\/07\/08\/test-genetic-care-depisteaza-recidiva-cancerului\/\" target=\"_blank\">metode genetice<\/a> moleculare<\/em>\u201d.<\/p>\n<p style=\"text-align: justify;\">Sursa: <a href=\"http:\/\/medicalxpress.com\/news\/2016-11-uncombable-hair-gene.html\" target=\"_blank\">medicalxpress.com<\/a><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Unii copii au p\u0103rul at\u00eet de \u00eenc\u00eelcit \u00eenc\u00eet cu greu poate fi piept\u0103nat. Oric\u00eet ar \u00eencerca p\u0103rin\u0163ii, nu pot b\u0103ga<\/p>\n","protected":false},"author":4,"featured_media":4297,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_exactmetrics_skip_tracking":false,"_exactmetrics_sitenote_active":false,"_exactmetrics_sitenote_note":"","_exactmetrics_sitenote_category":0,"footnotes":""},"categories":[86,91],"tags":[5145,5141,5144,5139,5137,5143,5136,5142,5140,5138],"class_list":["post-4296","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-mame-si-copii","category-stiri","tag-afectiuni-rare","tag-anomalii-genetice","tag-boli-ciudate","tag-padi3","tag-par-incurcat","tag-sindrom-bizar","tag-sindromul-parului-incalcit","tag-sindromul-parului-incurcat","tag-tchh","tag-tgm3"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v26.7 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Geneticienii au aflat cum apare sindromul p\u0103rului \u00eenc\u00eelcit - Doctor Expres<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"http:\/\/doctorexpres.ro\/index.php\/2016\/11\/17\/geneticienii-au-aflat-cum-apare-sindromul-parului-incilcit\/\" \/>\n<meta property=\"og:locale\" content=\"ro_RO\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Geneticienii au aflat cum apare sindromul p\u0103rului \u00eenc\u00eelcit - Doctor Expres\" \/>\n<meta property=\"og:description\" content=\"Unii copii au p\u0103rul at\u00eet de \u00eenc\u00eelcit \u00eenc\u00eet cu greu poate fi piept\u0103nat. 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