{"id":12822,"date":"2021-01-31T13:19:38","date_gmt":"2021-01-31T18:19:38","guid":{"rendered":"https:\/\/nebula.org\/blog\/sindrome-genetica-de-tourettes-yu-2019\/"},"modified":"2021-02-20T20:34:55","modified_gmt":"2021-02-21T01:34:55","slug":"sindrome-genetica-de-tourettes-yu-2019","status":"publish","type":"post","link":"https:\/\/nebula.org\/blog\/pt-br\/sindrome-genetica-de-tourettes-yu-2019\/","title":{"rendered":"S\u00edndrome de Tourette (Yu, 2019)"},"content":{"rendered":"\n

T\u00cdTULO DO ESTUDO:<\/strong> Interrogando os determinantes gen\u00e9ticos da s\u00edndrome de Tourette e outros transtornos de tique por meio de estudos de associa\u00e7\u00e3o de todo o genoma<\/a><\/p>\n\n

RESUMO:<\/strong> Descoberta de m\u00faltiplas variantes gen\u00e9ticas associadas \u00e0 S\u00edndrome de Tourette.<\/p>\n\n

VIS\u00c3O GERAL:<\/strong> A s\u00edndrome de Tourette \u00e9 um dist\u00farbio do sistema nervoso caracterizado por movimentos ou sons incontrol\u00e1veis, conhecidos como tiques. Afeta cerca de 1 em cada 150 pessoas, em graus variados. A s\u00edndrome de Tourette \u00e9 conhecida por ser altamente heredit\u00e1ria, com at\u00e9 80% do risco de doen\u00e7a ser herdado dos pais. Este estudo de associa\u00e7\u00e3o de todo o genoma procurou identificar variantes gen\u00e9ticas associadas \u00e0 s\u00edndrome de Tourette, examinando mais de 20.000 indiv\u00edduos de ascend\u00eancia europeia. Uma das principais variantes est\u00e1 localizada no gene FLT3, que codifica uma prote\u00edna receptora que se acredita desempenhar um papel nas fun\u00e7\u00f5es do sistema imunol\u00f3gico. Os autores tamb\u00e9m relatam 9 outras variantes gen\u00e9ticas que est\u00e3o significativamente associadas \u00e0 s\u00edndrome de Tourette.<\/p>\n\n

VOC\u00ca SABIA?<\/strong> A s\u00edndrome de Tourette \u00e9 geralmente diagnosticada no in\u00edcio da vida. Embora seja uma condi\u00e7\u00e3o cr\u00f4nica, muitos indiv\u00edduos afetados apresentam um pico nos sintomas na adolesc\u00eancia, seguido por uma melhora gradual at\u00e9 a idade adulta. [SOURCE]<\/a><\/p>\n\n

RESULTADOS DE AMOSTRA:<\/strong> Saiba mais sobre o Nebula Research Library<\/a> . <\/p>\n\n

\"resultados<\/a><\/figure>\n\n

VARIANTES ASSOCIADAS A TOURETTE:<\/strong> rs2504235, rs191044310, rs13407215, rs2708146, rs1906252, rs12459560, rs117648881, rs6670211, rs72853320, rs73205493<\/p>\n\n

RECURSOS ADICIONAIS:<\/strong>S\u00edndrome de Tourette: o que causa tiques nas pessoas? (V\u00eddeo)<\/a>O que \u00e9 Tourette?<\/a><\/p>\n\n

VOC\u00ca TAMB\u00c9M PODE ESTAR INTERESSADO EM:<\/strong> Tremores (M\u00fcller, 2016)<\/a>Epilepsia (ILAEC, 2014)<\/a><\/p>\n\n

ATUALIZA\u00c7\u00c3O SEMANAL:<\/strong> 11 de julho de 2020<\/p>\n\n

<\/p>\n","protected":false},"excerpt":{"rendered":"

T\u00cdTULO DO ESTUDO: Interrogando os determinantes gen\u00e9ticos da s\u00edndrome de Tourette e outros transtornos de tique por meio de estudos de associa\u00e7\u00e3o de todo o genoma RESUMO: Descoberta de m\u00faltiplas variantes gen\u00e9ticas associadas \u00e0 S\u00edndrome de Tourette. VIS\u00c3O GERAL: A …<\/p>\n

S\u00edndrome de Tourette (Yu, 2019)<\/span> Leia mais 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