Análisis de mutaciones en los genes SOD1 y C9orf72 en pacientes con esclerosis lateral amiotrófica, Antioquia, Colombia

Jimena Jaramillo, Juan M. Solano, Alejandra Aristizábal, Juliana Martínez , .

Palabras clave: Esclerosis lateral amiotrófica/genética, enfermedades neurodegenerativas, genes, mutaciones

Resumen

Introducción. La esclerosis lateral amiotrófica es una enfermedad neurodegenerativa con un posible origen multifactorial, caracterizado por una degeneración progresiva de las neuronas motoras. Hay una gran prevalencia relativa de esta enfermedad en Antioquia; sin embargo, no hay publicaciones de estudios genéticos en Colombia. A pesar de su etiopatogénesis desconocida, hay varios factores de riesgo genético que se encuentran constantemente en el desarrollo de esta enfermedad.
Objetivo. Evaluar las mutaciones G93A y D90A del gen SOD1 y una repetición corta en tándem (Short Tandem Repeat, STR) en el locus C9orf72, en una cohorte de pacientes con esclerosis lateral amiotrófica en Antioquia, Colombia.
Materiales y métodos. Se incluyeron 34 pacientes previamente diagnosticados en el estudio. Una muestra de sangre periférica se usó para extraer el ADN y, posteriormente, genotipificarlo.
Resultados. No se encontraron mutaciones en el gen SOD1 (G93A y D90A), mientras que el C9orf72 exhibe un alelo con una significativa prevalencia en los pacientes del estudio (8 repeticiones del hexanucleótido G4C2).
Conclusiones. Se sugiere una asociación entre la repetición en tándem en C9orf72 y la presencia de la esclerosis lateral amiotrófica en la población estudiada. Sin embargo, se sugiere hacer estudios adicionales e incluir un grupo control de la misma población. Además, se detecta un fenómeno de anticipación genética de la enfermedad, dado que los pacientes con el alelo de 8 repeticiones en C9orf72 presentan una edad temprana de aparición de los síntomas.

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Cómo citar
1.
Jaramillo J, Solano JM, Aristizábal A, Martínez J. Análisis de mutaciones en los genes SOD1 y C9orf72 en pacientes con esclerosis lateral amiotrófica, Antioquia, Colombia. biomedica [Internet]. 1 de diciembre de 2022 [citado 1 de febrero de 2023];42(4):623-32. Disponible en: https://revistabiomedica.org/index.php/biomedica/article/view/6060
Publicado
2022-12-01
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