La mutación del gen SIGMAR1, implicada en la esclerosis

Los soñadores son los salvadores del mundo

       Woody Allen

 Científicos de Arabia Saudí han identificado una mutación del gen SIGMAR1 implicada en el desarrollo de la esclerosis lateral amiotrófica juvenil. El estudio, publicado en Annals of Neurology, muestra que los diferentes efectos de los receptores del gen afectan la función motora y el transcurso de la enfermedad.

Diversos estudios cifran la prevalencia de la enfermedad entre uno y tres casos por 100.000 individuos sin que existan antecedentes familiares en el 90 por ciento de los casos. En el 10 por ciento restante, hay más de un miembro de la familia afectado con esclerosis lateral amiotrófica.

El equipo ha elaborado el mapa genético del ADN de los participantes y se ha servido de la secuenciación directa para detectar lamutación. Así, ha identificado una región de homocigosis compartida en individuos afectados y una mutación de SIGMAR1 que condiciona la codificación de una proteína, el receptor Sigma-1. Estas células con la proteína mutante eran menos resistentes a la apoptosis, inducida por el estrés en el retículo endoplasmático.

Estudios previos han revelado que el gen superóxido dismutasa 1 está presente en el 20 por ciento de los familiares y en el cinco por ciento de los casos de este tipo de esclerosis. También están implicadas mutaciones del gen ALS2 y SETX.

Fuente:http://wwww.diariomedico.com

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