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Un locus familiar de la enfermedad de Alzheimer en el cromosoma 1

E Levy-Lahad¹, E M Wijsman, E Nemens

¹Geriatric Research, Education, and Clinical Center (182B), Veterans Affairs Medical Center, Seattle, WA 98108-1597, USA.

Science (New York, N.Y.)

|August 18, 1995

Resumen

Los investigadores identificaron un nuevo locus genético de la enfermedad de Alzheimer (EA) en el cromosoma 1. Este hallazgo en parientes alemanes del Volga sugiere una causa genética específica para la enfermedad de Alzheimer de aparición temprana (EA) en esta población.

Área de la Ciencia:

Genética La genética.
Neurología Neurología.
Enfermedad humana Enfermedad humana.

Sus antecedentes:

La enfermedad de Alzheimer (EA) es un trastorno neurodegenerativo progresivo.
Los factores genéticos juegan un papel crucial en la etiología de la enfermedad de Alzheimer de inicio temprano (EA).
Estudios genéticos anteriores han relacionado la enfermedad de Alzheimer con regiones cromosómicas específicas, pero aún no se han identificado nuevos loci.

Objetivo del estudio:

Identificar el locus genético responsable de la enfermedad de Alzheimer de aparición temprana autosómica dominante (DA) en parientes alemanes del Volga.
Investigar la base genética de la EA en familias en las que se han excluido los loci conocidos de la EA.

Principales métodos:

Se realizó un análisis de enlace autosómico en siete familias de la región del Volga alemana afectadas por la enfermedad de Alzheimer de aparición temprana.
Los marcadores microsatélites, incluido D1S479, se utilizaron para genotipar a los miembros de la familia.
Se evaluó el vínculo genético a los loci AD conocidos en los cromosomas 21 y 14, y a nuevas regiones.

Principales resultados:

Se excluyó la vinculación con los cromosomas 21 y 14.
Se encontraron pruebas significativas de vínculo con la enfermedad de Alzheimer (EA) en la región pericentromérica del cromosoma 1, específicamente con el marcador D1S479.9.
Un alelo de pares de 112 bases de D1S479 co-segregado con AD en cinco de las siete familias, lo que sugiere un efecto fundador común.

Conclusiones:

Se ha identificado un nuevo locus para la enfermedad de Alzheimer de aparición temprana autosómica dominante (EA) en el cromosoma 1q31-42.
Este hallazgo proporciona información sobre la heterogeneidad genética de la enfermedad de Alzheimer (EA).
El locus identificado puede representar un contribuyente genético significativo al inicio temprano de la enfermedad de Alzheimer en la población estudiada.

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