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La deficiencia múltiple de sulfatasa es causada por mutaciones en el gen que codifica la enzima que genera la C(alfa)
Thomas Dierks1, Bernhard Schmidt, Ljudmila V Borissenko
1Biochemie II, Universität Göttingen, Germany.
Cell
|May 22, 2003
Resumen
La C ((alfa) -formilglicina (FGly) es crucial para la función de la sulfatasa. Su deficiencia causa deficiencia múltiple de sulfatasa (MSD), un trastorno tratable mediante la restauración de la enzima generadora de FGly (FGE).
Área de la Ciencia:
- La bioquímica es la bioquímica.
- Genética La genética.
- Biología Molecular Biología Molecular
Sus antecedentes:
- La C ((alfa) -formilglicina (FGly) es el residuo catalítico esencial en las sulfatasas eucariotas.
- FGly se forma después de la traducción de la cisteína en el retículo endoplasmático.
- Los defectos genéticos en la formación de FGly conducen a la deficiencia múltiple de sulfatasa (MSD), un trastorno de almacenamiento lisosomal.
Objetivo del estudio:
- Identificar y caracterizar la enzima generadora de FGly (FGE) y su gen.
- Investigar la base genética de las EMS mediante el análisis de las mutaciones de FGE.
- Explorar estrategias terapéuticas para la EMS mediante la evaluación de la terapia génica FGE.
Principales métodos:
- Purificación de la enzima generadora de FGly (FGE).
- Identificación genética y secuenciación de FGE en pacientes con EM.
- Análisis funcional de FGE en fibroblastos derivados de pacientes a través de la transducción del ADNc.
Principales resultados:
- Se purificó la enzima generadora de FGly (FGE) y se identificó su gen codificador.
- Se encontraron nueve mutaciones en el gen FGE en siete pacientes con EMS.
- La transducción del ADNc de FGE restauró parcialmente la actividad de la sulfatasa en los fibroblastos de los pacientes, a diferencia del ADNc mutado.
Conclusiones:
- El gen FGE es esencial para la formación de FGly y la actividad de la sulfatasa.
- Las mutaciones en el gen FGE causan deficiencia múltiple de sulfatasa (MSD).
- La terapia génica que utiliza el ADNc de FGE funcional muestra potencial para el tratamiento de las EEM.
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