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Fibrose cística by Karima Gourari-Bouzouina

Fibrose cística

by Karima Gourari-Bouzouina , Zahia Boucherit-Otmani
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Book cover type: Paperback
  • ISBN13: 9786209326967
  • Binding: Paperback
  • Subject: N/A
  • Publisher: Edicoes Nosso Conhecimento
  • Publisher Imprint: Edicoes Nosso Conhecimento
  • Publication Date:
  • Pages: 108
  • Original Price: GBP 52.98
  • Language: Portuguese
  • Edition: N/A
  • Item Weight: 155 grams
  • BISAC Subject(s): Life Sciences / Biology

A fibrose qu�stica (FQ) � uma doen�a gen�tica letal que afeta principalmente os caucasianos, causada por muta��es no gene CFTR, que codifica um canal de i�es cloreto. A muta��o mais comum, ∆F508, altera o enovelamento da prote�na CFTR e impede a sua express�o na superf�cie das c�lulas epiteliais, interrompendo o transporte de i�es e �gua e levando � produ��o de muco espesso, uma caracter�stica marcante da doen�a pulmonar da FQ. Os tratamentos avan�aram, com os antibi�ticos a controlar as infe��es cr�nicas e os moduladores do CFTR (ivacaftor, tezacaftor, elexacaftor) a melhorar a fun��o da prote�na. No entanto, muitos doentes com muta��es raras ou resist�ncia a medicamentos permanecem sem tratamento. As terapias emergentes concentram-se agora na terapia gen�tica para corrigir ou substituir o gene CFTR defeituoso e na terapia celular para regenerar o epit�lio funcional a partir de c�lulas estaminais corrigidas. A combina��o destas estrat�gias oferece um caminho promissor para a corre��o personalizada e a longo prazo da causa molecular da FQ.

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