Ciência Diária » Descoberta mutação responsável por casos de leucemia mieloide aguda

Descoberta mutação responsável por casos de leucemia mieloide aguda

Submitted by Ciência Diária on Friday, 19 February 201084 Comentários

Células imaturas da leucemia na medula óssea. Crédito: Abramson Cancer Center.

Embora a leucemia seja um dos cancros mais explorados pela medicina, a causa de alguns tipos da doença é ainda pouco compreendida. Agora, uma mutação recém-encontrada em pacientes com leucemia mieloide aguda por pesquisadores da Universidade da Pensilvânia, EUA, pode ajudar a entender pelo menos metade dos casos em adultos.

“A biologia molecular da leucemia tem sido estudada há duas décadas e pensávamos ter encontrado a maioria dos genes comuns para a leucemia”, comenta Craig Thompson, autor sênior da pesquisa. “Agora, somos capazes de indicar um tipo distinto de mutação para metade das leucemias remanescentes, que não sabíamos a causa até então”.

Utilizando amostras de tecidos com leucemia mieloide aguda (LMA), Thompson e seus colegas verificaram altos níveis de uma molécula chamada 2HG. O aumento da quantidade de 2HG é resultado de uma mutação em uma das duas enzimas metabólicas IDH1 ou IDH2, processo observado em mais de 23% dos pacientes com LMA.

Além disso, as mutações do gene IDH são as primeiras mutações de câncer conhecidas que resultam na criação de uma proteína com nova atividade enzimática. A maioria das mutações transforma a proteína, tornando-a hiperativa ou inativa em relação a sua função. As mutações nas proteínas IDH dão às enzimas sinal verde para a criação de uma nova molécula, produzida apenas em condições anormais. Os pesquisadores também descobriram que as mutações na IDH2 são mais comuns do que as mutações da IDH1 em pacientes com leucemia mieloide aguda. Outros genes relacionados à leucemia incluem quebras e reformulações do cromossomo, chamadas translocações (anomalia do cromossomo).

A identificação de mutações IDH dá novas esperanças para o desenvolvimento de testes de detecções mais eficientes da LMA e sugere que bloquear a produção de 2HG poderia reverter a capacidade dos genes mutantes de manter as células leucêmicas. “Se pudermos bloquear a produção de 2HG pelo tumor, talvez sejamos capazes de parar a leucemia nos pacientes”, aponta Thompson. Ainda não se sabe por que a produção de 2HG leva à doença, mas tudo indica que o processo seja diferente de outros tipos de câncer.

Veja também:

- Cientistas sintetizam família única de compostos anticancerígenos
- Decitabina pode atuar contra leucemia mieloide aguda em idosos
- Composto natural inibe migração de células do câncer no organismo
- Nanomedicina contra o câncer: novos estudos são promissores
- Assinatura no gene pode indicar se câncer é resistente à quimioterapia
- Sensor detecta diabetes e câncer pela saliva ou respiração em segundos

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