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>Revistas >Gaceta Médica de México >Año 2019, No. 1


Ramírez-García SA, Sánchez-Corona J, Ortega-Pacheco D, Ramírez-Bohórquez E, García-Cruz D
Ataxina-2, nuevo blanco en enfermedades genéticas complejas
Gac Med Mex 2019; 155 (1)

Idioma: Español
Referencias bibliográficas: 30
Paginas: 58-62
Archivo PDF: 349.97 Kb.


Texto completo




RESUMEN

El gen de la ataxina-2 es un blanco en la patogénesis de enfermedades complejas, entre ellas los factores de riesgo cardiovascular y enfermedades neurodegenerativas. El gen ATXN2 tiene un VNTR en el exón 1, cuya expansión por encima de las 30 repeticiones provoca al desarrollo de ataxia espinocerebelosa tipo 2; las repeticiones en rango menor se asocian con diabetes tipo 2 o esclerosis lateral amiotrófica. También este locus está ligado con fenotipos metabólicos e inflamatorios. En conclusión, el gen puede ser utilizado como marcador clínico de fenotipos metabólicos y neurológicos, lo cual está relacionado con su efecto pleiotrópico.


Palabras clave: Ataxina-2, Glaucoma, Inflamación, Microcirculación, Parkinsonismo.


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>Revistas >Gaceta Médica de México >Año2019, No. 1
 

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