O Gene do Amuleto
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Atualmente, as doen�as neurol�gicas s�o um dos factores mais importantes que causam a morte. Incluindo os dist�rbios nervosos mortais, as doen�as neurol�gicas podem ser notadas doen�a de Moyamoya. Esta doen�a de padr�o heredit�rio recessivo ligado ao X � transferida para a gera��o seguinte. A doen�a � causada por muta��es nos genes das c�lulas nervosas. Mas os factores epigen�ticos tamb�m t�m um papel importante na capacidade de induzir a doen�a. Neste estudo, analis�mos 50 pessoas. 20 doentes com doen�a de Moyamoya e 30 pessoas do grupo de controlo. Os genes RNF213 no cromossoma 17q25, ACTA2 no cromossoma 10q23.3, GUCY1A3 no cromossoma 4q32, foram analisados em termos de muta��es gen�ticas. Neste estudo, foram selecionadas pessoas com muta��es gen�ticas, com doen�as nervosas, doen�a de Moyamoya. De facto, todas as pessoas com doen�a de Moyamoya. 20 doentes com a doen�a de Moyamoya apresentavam muta��es gen�ticas nos genes RNF213 no cromossoma 17q25, ACTA2 no cromossoma 10q23.3, GUCY1A3 no cromossoma 4q32 da doen�a de Moyamoya. N�o foram detectadas quaisquer muta��es gen�ticas nos genes alvo do grupo de controlo. Este � o Amulet Gene.
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