Diagnóstico molecular de la enfermedad de Huntington en Costa Rica
Archivos
Fecha
2008-09
Tipo
artículo original
Autores
Vásquez Cerdas, Melissa
Morales Montero, Fernando
Fernández Morales, Húberth
del Valle Carazo, Gerardo
Fornaguera Trías, Jaime
Cuenca Berger, Patricia
Título de la revista
ISSN de la revista
Título del volumen
Editor
Acta Médica Costarricense 50(1) p 35-41
Resumen
Justificación y objetivo. Este estudio representa un esfuerzo para establecer por primera vez en Costa Rica el diagnóstico molecular de la enfermedad de Huntington; esto favorecerá un mejor manejo clínico de los pacientes y podrá ser traducido en un incremento de la calidad de vida de las familias. Se pretende determinar el número de repeticiones CAG en personas con la enfermedad de Huntington y familiares mediante el diagnóstico molecular, con el fin de ofrecerles asesoramiento genético adecuado y oportuno. Métodos: El estudio se realizó en 7 pacientes con diagnóstico clínico de Huntington y 31 familiares en riesgo. Para determinar el número de repeticiones CAG se utilizó la reacción en cadena de polimerasa y la posterior electroforesis sobre geles de agarosa y poliacrilamida. Resultados: Se obtuvo el diagnóstico molecular de los 38 individuos. Se confirmó el diagnóstico clínico en las 7 personas afectadas, se encontraron 11 con la mutación que permanecían asintomáticas y 20 sin la mutación. Se observó una correlación negativa entre la edad de inicio y el número de repeticiones, así como inestabilidad intergeneracional, tanto vía materna como paterna. No hay diferencias en el número de repeticiones, según el sexo del progenitor transmisor. Conclusión: Los análisis moleculares mostraron un perfil de repeticiones similar al de otras poblaciones. Hemos identificado las primeras familias portadoras de enfermedad de Huntington en Costa Rica, permitiendo dar a los pacientes y su familia asesoramiento genético adecuado y oportuno basado en información confiable.
Justification and Aim. This study represents an effort to establish the molecular diagnosis of Huntington’s disease in Costa Rica. This would improve the clinical management of the patients and that could be translated into better quality of life for them and their families. Aim: to determine the number of CAG repeats in affected individuals and their relatives by molecular diagnosis in order to offer them adequate genetic counseling. Methods: The study involved 7 patients with clinical diagnosis of this disease and 31 relatives at risk. To determine the number of repeats we used the polymerase chain reaction and electrophoresis on agarose and polyacrylamide gels.Results: We obtained the molecular diagnosis in all of the individuals. The clinical diagnosis was confirmed in the 7 affected individuals, 11 remained asymptomatic but carrying the mutation and 20 were found without the mutation. A negative correlation was observed between the age of onset and the repeat size. We also observed intergenerational instability, both through the maternal and paternal side. There were no differences in the number of repeats according to sex of the progenitor transmitter. Conclusions: Our molecular analyses showed a profile of repeats similar to other populations. We have identified for the first time families carrying a CAG expansion in Costa Rica, which will allow us to give adequate and opportune genetic counseling to the patients and their families, based on reliable information.
Justification and Aim. This study represents an effort to establish the molecular diagnosis of Huntington’s disease in Costa Rica. This would improve the clinical management of the patients and that could be translated into better quality of life for them and their families. Aim: to determine the number of CAG repeats in affected individuals and their relatives by molecular diagnosis in order to offer them adequate genetic counseling. Methods: The study involved 7 patients with clinical diagnosis of this disease and 31 relatives at risk. To determine the number of repeats we used the polymerase chain reaction and electrophoresis on agarose and polyacrylamide gels.Results: We obtained the molecular diagnosis in all of the individuals. The clinical diagnosis was confirmed in the 7 affected individuals, 11 remained asymptomatic but carrying the mutation and 20 were found without the mutation. A negative correlation was observed between the age of onset and the repeat size. We also observed intergenerational instability, both through the maternal and paternal side. There were no differences in the number of repeats according to sex of the progenitor transmitter. Conclusions: Our molecular analyses showed a profile of repeats similar to other populations. We have identified for the first time families carrying a CAG expansion in Costa Rica, which will allow us to give adequate and opportune genetic counseling to the patients and their families, based on reliable information.
Descripción
Artículo científico -- Universidad de Costa Rica. Instituto de Investigaciones en Salud, 2008
Palabras clave
diagnóstico molecular, inestabilidad genética, mutaciones inestables, tripleta repetida CAG, Genética humana