9º FICHAMENTO (TRADUZIDO)
Autor: HITCHASLEY BLOG | Publicado: 2011-06-02T20:41:00-07:00

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Arquivos de Neuro-Psiquiatria
ISSN 0004-282X
Arq. Neuro Psiquiatr. vol.69 no.1 São Paulo fevereiro 2011
doi: 10.1590/S0004-282X2011000100001

O neurodegeneração malformação cerebral e câncer pode ter em comum? Uma expressão de gene anormal!

&nbsp;Fernando Kok

MD, PhD, professor adjunto, Serviço de Neurologia Infantil do Hospital das Clínicas da Universidade de São Paulo Faculdade de Medicina, São Paulo, SP, Brasil.  
  “No manuscrito mais clássico, Valadares e cols.1 apresentaram seus resultados clínicos e moleculares de uma grande família com 10 indivíduos afetados com juvenis lipofuscinoses ceróides (Cln3), em que a supressão 1,03 kb comum do gene Cln3 foi encontrado. Neste transtorno grave neurodegenerativas, em que quase todos os pacientes compartilharam a mesma mutação, é notável, mas não surpreendente, que a apresentação do fenótipo clínico e foram moderadamente variável: a variabilidade no transtorno mendelianos são mais comuns do que inicialmente se acreditava e representam um desafio adicional para os médicos ”.  “Usando uma técnica conhecida como hibridação genômica comparativa (CGH), que está se tornando um padrão de atendimento para investigação de várias condições, incluindo atraso do autismo, do desenvolvimento / retardo mental e uma vasta gama de cérebro ou sistêmica malformações congênitas, que detectaram anomalias cromossômicas submicroscópicas em quatro fetos com HPE”.  “O significado clínico das alterações submicroscópicas herdada é incerto, uma vez que as variantes são freqüentemente encontrados. Também é útil para confirmar o desequilíbrio detectado anormal com uma técnica complementar, como técnica de hibridização fluorescente in situ (FISH), para validar o resultado de CGH”.  “Finalmente, a fim de dar um aconselhamento apropriado, devemos estar cientes de que, aparentemente, de um novo rearranjo genômico pode ser causada por uma translocação balanceada em um dos pais, o que pode trazer para seus descendentes um risco elevado de anormalidades cromossômicas”.