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Expresión fenotípica diferencial por tres alelos mutantes en la lecitina familiar: deficiencia de colesterol

T Gotoda¹, N Yamada, T Murase

¹Third Department of Internal Medicine, University of Tokyo, Japan.

Lancet (London, England)

|September 28, 1991

Resumen

Las mutaciones genéticas en la lecitina:colesterol aciltransferasa (LCAT) causan deficiencia familiar de LCAT, lo que afecta el metabolismo de las lipoproteínas. Diferentes mutaciones del gen LCAT conducen a una variada actividad enzimática y severidad de la enfermedad.

Área de la Ciencia:

La bioquímica es la bioquímica.
Genética La genética.
Biología Molecular Biología Molecular

Sus antecedentes:

Deficiencia familiar de lecitina: la colesterol aciltransferasa (LCAT) es un trastorno autosómico recesivo.
Se caracteriza por anormalidades en las lipoproteínas plasmáticas y deposición de colesterol no esterilizado en los tejidos.

Objetivo del estudio:

Para aclarar la base molecular de la deficiencia familiar de LCAT.
Para identificar mutaciones específicas en el gen LCAT responsable del trastorno.

Principales métodos:

Reacción en cadena de la polimerasa (PCR) amplificación de los genes LCAT de tres pacientes japoneses.
Secuenciación directa de fragmentos de genes LCAT amplificados que cubren todos los exones y uniones.

Principales resultados:

Se identificaron tres distintas mutaciones homocigóticas del gen LCAT en los pacientes.
Una inserción de 3 bp en el exón 4 resultó en casi la ausencia de masa y actividad de LCAT.
Dos mutaciones de mal sentido en el exón 6 llevaron a enzimas funcionalmente defectuosas con diferentes actividades específicas.

Conclusiones:

Diferentes mutaciones del gen LCAT contribuyen a la actividad y masa plasmáticas diferenciales de LCAT.
Estas diferencias moleculares dan como resultado expresiones fenotípicas variadas de la deficiencia familiar de LCAT.

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