Cystic fibrosis transmembrane regulator protein mutations: 'class' opportunity for novel drug innovation.
Paediatr Drugs
; 9(1): 1-10, 2007.
Article
en En
| MEDLINE
| ID: mdl-17291132
ABSTRACT
Cystic fibrosis (CF) is the most common autosomal, recessive, life-span shortening disease in Caucasians. Since discovery of the gene for CF (cystic fibrosis transmembrane conductance regulator [CFTR]) in 1989, knowledge of the molecular function of this gene and its interactions has offered new therapeutic targets. New therapeutics aimed at improving mutant CFTR protein function, also known as 'protein repair therapy,' have been proposed but are yet to be successful in clinical trials. Some of the most exciting efforts involve a new field known as small molecule discovery, which entails the identification, evaluation, and optimization of small organic compounds that can alter the function of a selected gene target or cell phenotype. More than 1300 CFTR mutations have been identified. Many of the more common mutations have been organized into five broad classes based on the fate of the mutant CFTR protein. In each of these mutation classes, interventions have been able to restore some level of CFTR function in vitro. While these 'repairs' have yet to be demonstrated clinically, some early clinical trials are underway. Questions regarding the amount of CFTR correction needed, delivery methods, and optimal therapeutic combinations, however, remain outstanding.
Buscar en Google
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Regulador de Conductancia de Transmembrana de Fibrosis Quística
/
Fibrosis Quística
/
Proteínas Mutantes
/
Mutación
Límite:
Humans
Idioma:
En
Revista:
Paediatr Drugs
Asunto de la revista:
PEDIATRIA
/
TERAPIA POR MEDICAMENTOS
Año:
2007
Tipo del documento:
Article
País de afiliación:
Estados Unidos
Pais de publicación:
CH
/
SUIZA
/
SUÍÇA
/
SWITZERLAND