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Ciencia Básica y Patogénesis

Sohan Angelo A1, Piu A Das1, Abhishek Mensegere Lingegodwa2

  • 1Center for Brain Research, Bangalore Urban, Karnataka, India.

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|December 24, 2025
PubMed
Resumen
Este resumen es generado por máquina.

Las variantes genéticas en el gen de la metilentetrahidrofolato reductasa (MTHFR) se asocian con niveles elevados de homocisteína. Una variante intrónica de MTHFR (1:11793135) se asoció significativamente con niveles más altos de homocisteína en una cohorte india de edad avanzada.

Palabras clave:
genéticametabolismo de la homocisteínaenvejecimientopolimorfismos genéticospoblación india

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Área de la Ciencia:

  • Genética; Bioquímica; Gerontología

Sus antecedentes:

  • La metilentetrahidrofolato reductasa (MTHFR) es crucial para el metabolismo del folato y la regulación de la homocisteína.; Las variantes genéticas de MTHFR se asocian con niveles elevados de homocisteína, un factor de riesgo para el deterioro cognitivo.; Se utilizó la cohorte TATA Longitudinal Study of Aging (TLSA) para investigar las variaciones genéticas del gen MTHFR.

Objetivo del estudio:

  • Investigar las variaciones genéticas en el gen MTHFR y sus regiones adyacentes.; Determinar la asociación entre las variantes de MTHFR y los niveles de homocisteína en una población india de edad avanzada.; Explorar posibles predisposiciones genéticas al metabolismo alterado de la homocisteína en el envejecimiento.

Principales métodos:

  • Se realizó un análisis genotipo-fenotipo en 376 participantes de la cohorte TLSA después del control de calidad.; Se utilizó PLINK v1.9.0 para el análisis, teniendo en cuenta la edad, el sexo, los niveles de vitamina B12 y ácido fólico.; Los métodos estadísticos incluyeron pruebas de Mann-Whitney y Chi-Cuadrado para comparaciones demográficas y de niveles de homocisteína.

Principales resultados:

  • La cohorte TLSA (N=696, edad media 73,6 años) presentó niveles medios elevados de homocisteína (19,4 μmol/L).; Una variante intrónica de MTHFR (1:11793135) con una frecuencia alélica de 0,0213 mostró una asociación significativa con niveles más altos de homocisteína (p=0,01867).; El análisis se ajustó por edad, sexo, niveles de vitamina B12 y ácido fólico.

Conclusiones:

  • Se encontró una asociación significativa entre la variante MTHFR 1:11793135 y niveles elevados de homocisteína en una población india de edad avanzada.; Estos hallazgos sugieren una posible predisposición genética al metabolismo alterado de la homocisteína en personas mayores.; El estudio destaca la importancia del cribado genético de los polimorfismos de MTHFR y las intervenciones dirigidas para mitigar el deterioro cognitivo.