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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.
Alzheimer's & dementia : the journal of the Alzheimer's Association
|December 24, 2025
Resumen
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.
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.
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