Genoma Humano Essay

3170 words - 13 pages

Genoma Humano: Intervencion de la genética en la salud y la enfermedad.
La enfermedad de Huntington (EH) es una enfermedad hereditaria que provoca el desgaste de algunas células nerviosas del cerebro. Las personas nacen con el gen defectuoso pero los síntomas no aparecen hasta después de los 30 o 40 años. Los síntomas iniciales de EH pueden incluir movimientos descontrolados, torpeza o problemas de equilibrio. Más adelante, la EH puede impedir caminar, hablar o tragar. Algunas personas dejan de reconocer a sus familiares. Otros están consientes de lo que los rodea y pueden expresar sus emociones.
¿Cómo se hereda la enfermedad de Huntington?
La EH se encuentra en todos los países del ...view middle of the document...

Cada mitad de un par cromosómico es similar a la otra, excepto por un par, que determina el sexo del individuo. Este par tiene dos cromosomas X en las mujeres y un cromosoma X y uno Y en los hombres. El gen que produce la enfermedad se encuentra en el cromosoma 4, uno de los 22 pares de cromosomas no ligados al sexo, o "autosómicos," que colocan a los hombres y a las mujeres en riesgo idéntico de contraer la enfermedad.
El impacto de un gen depende parcialmente de si es dominante o recesivo. Si un gen es dominante, sólo es necesario que uno de los cromosomas apareados produzca su efecto determinado. Si el gen es recesivo, ambos padres deben proporcionar copias cromosómicas para que se encuentre el rasgo. La EH se llama trastorno dominante autosómico debido a que sólo una copia del gen defectuoso, heredada de uno de los padres, es necesaria para producir la enfermedad.
El defecto genético responsable por Huntington es una pequeña secuencia de ADN en el cromosoma 4, en el cual varios pares de bases se repiten muchas, muchas veces. El gen normal tiene tres bases de ADN, compuestas por la secuencia CAG. En las personas con la enfermedad, la secuencia se repite anormalmente docenas de veces. Con el tiempo—y con cada generación sucesiva—el número de repeticiones de CAG puede expandirse más.
Cada padre tiene dos copias de cada cromosoma pero entrega sólo una a cada hijo. Cada hijo de un padre con EH tiene una probabilidad del 50-50 de heredar el gen de la enfermedad. Si un hijo no hereda el gen, no contraerá la enfermedad y no la puede trasmitir a las generaciones subsiguientes. Una persona que hereda el gen de la EH y sobrevive lo suficiente, tarde o temprano padecerá la enfermedad. En algunas familias, todos los hijos pueden heredar el gen; en otras, ninguno de ellos. Si un hijo hereda el gen no tiene relación con que otros compartan o no el mismo destino.
Un pequeño número de casos de EH es esporádico, o sea, se produce aunque no haya antecedentes familiares del trastorno. Se cree que estos casos están causados por una nueva mutación genética, una alteración en el gen que se produce durante el desarrollo del esperma y que lleva el número de repeticiones de CAG al rango que causa la enfermedad.
¿Qué investigación se está haciendo?
Genética molecular
Durante 10 años, los científicos se concentraron en un segmento del cromosoma 4 y, en 1993, finalmente aislaron el gen de la EH. El proceso de aislar el gen responsable—motivado por el deseo de encontrar una cura—fue más difícil de lo que se anticipó. Los científicos ahora creen que identificar la ubicación del gen de la EH es el primer paso en el camino hacia la cura.
Encontrar el gen de la EH involucró un esfuerzo de investigación genética molecular intensa con investigadores colaboradores de todo el mundo. Al comienzo de 1993, los científicos colaboradores anunciaron que habían aislado la secuencia triple de repetición de ADN inestable que tiene el gen de la EH. Los investigadores dependieron...

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