descoberta foi publicada no\u00a0JAMA Ophthalmology.<\/a><\/p>\nEm seguida, entenda como foi realizado o estudo e como a descoberta de novos mecanismos de doen\u00e7as da retina pode, no futuro, ajudar no diagn\u00f3stico correto e no desenvolvimento de mais tratamentos.<\/p>\n
Nova doen\u00e7a da retina<\/h2>\n
As distrofias maculares s\u00e3o dist\u00farbios que causam perda visual central devido \u00e0s muta\u00e7\u00f5es em v\u00e1rios genes, incluindo ABCA4, BEST1, PRPH2 e TIMP3.<\/p>\n
Por exemplo, pacientes com Distrofia de Sorsby Fundus, doen\u00e7a ocular gen\u00e9tica especificamente ligada \u00e0s variantes\u00a0TIMP3, desenvolvem sintomas na idade adulta.\u00a0Eles apresentam mudan\u00e7as repentinas na acuidade visual devido \u00e0 neovasculariza\u00e7\u00e3o coroidal \u2013 novos vasos sangu\u00edneos anormais que crescem sob a retina, vazando fluido e afetando a vis\u00e3o.<\/p>\n
A TIMP3 \u00e9 uma prote\u00edna que ajuda a regular o fluxo sangu\u00edneo da retina e \u00e9 secretada pelo epit\u00e9lio pigmentar da retina (RPE), uma camada de tecido que nutre e suporta os fotorreceptores sens\u00edveis \u00e0 luz da retina.<\/p>\n
\u201cAchamos surpreendente que dois pacientes tinham variantes\u00a0TIMP3\u00a0n\u00e3o na prote\u00edna madura, mas na sequ\u00eancia de sinal curta que o gene usa para ‘cortar’ a prote\u00edna das c\u00e9lulas.\u00a0Mostramos que essas variantes evitam a clivagem, fazendo com que a prote\u00edna fique presa na c\u00e9lula, provavelmente levando \u00e0 toxicidade do epit\u00e9lio pigmentar da retina\u201d, disse o autor principal do estudo, Bin Guan, em comunicado.<\/p>\n
A pesquisa<\/h2>\n
Os cientistas acompanharam os achados com avalia\u00e7\u00f5es cl\u00ednicas e testes gen\u00e9ticos de membros da fam\u00edlia para verificar se as duas novas variantes do\u00a0TIMP3\u00a0est\u00e3o conectadas a essa maculopatia at\u00edpica.<\/p>\n
\u201cOs indiv\u00edduos afetados tinham escotomas, ou pontos cegos, e altera\u00e7\u00f5es em suas m\u00e1culas indicativas de doen\u00e7a. Mas, por enquanto, eles t\u00eam vis\u00e3o central preservada e nenhuma neovasculariza\u00e7\u00e3o coroidal, ao contr\u00e1rio da t\u00edpica Distrofia de Fundo de Sorsby\u201d, falou um dos pesquisadores, Cathy Cukras.<\/p>\n
\u201cDescobrir novos mecanismos de doen\u00e7as, mesmo em genes conhecidos como\u00a0TIMP3, pode ajudar os pacientes que procuram o diagn\u00f3stico correto e, esperan\u00e7osamente, levar\u00e1 a novas terapias para eles\u201d, afirmou o pesquisador Rob Hufnagel.<\/p>\n
Revisado por Paulo Schor, m\u00e9dico oftalmologista, professor livre docente e diretor de inova\u00e7\u00e3o da Universidade Federal de S\u00e3o Paulo (Unifesp) e colaborador da Faculdade de Medicina do Hospital Albert Einstein.<\/em><\/p>\nAcompanhe o blog da Phelcom e fique por dentro das principais novidades sobre a nova doen\u00e7a da retina.<\/p>\n","protected":false},"excerpt":{"rendered":"
A nova doen\u00e7a da retina lesiona a m\u00e1cula. Descoberta foi publicada no\u00a0JAMA Ophthalmology.<\/p>\n","protected":false},"author":3,"featured_media":7011,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"_et_pb_use_builder":"","_et_pb_old_content":"","_et_gb_content_width":"","footnotes":""},"categories":[104],"tags":[],"class_list":["post-17296","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-inovacao"],"acf":[],"yoast_head":"\n
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