MTHFR
- 3 independent labs in 1 country
- Humans1
- Animals2
Effects
4Cognitive function
no changein mice1
1 study
Cognitive function
no changein mice1
MTHFR has no effect on cognitive function in mice.
“Female Mthfr +/‐ mice showed no significant differences from WT counterparts in these behavior tests.”
Animalsheterozygous knockoutfemalesn = 36
Sex‐Specific Differences in Cognition of Mthfr Deficient Mice
AAIC 2025 abstract25 Dec 2025
Novel object recognition exploratory ratio
upin mice1
1 study
Novel object recognition exploratory ratio
upin mice1
MTHFR increases novel object recognition exploratory ratio in mice (60.591% vs 30.884% (p = 0.0227)).
“For novel object recognition test, Mthfr +/‐ males averaged an exploratory ratio of 60.591% while WT males averaged 30.884% ( p = 0.0227).”
Animalsheterozygous knockoutmalesn = 36
Sex‐Specific Differences in Cognition of Mthfr Deficient Mice
AAIC 2025 abstract25 Dec 2025
Time in open field center
upin mice1
1 study
Time in open field center
upin mice1
MTHFR increases time in open field center in mice (121.889 s vs 77.444 s (p = 0.0256)).
“Mthfr +/‐ male mice averaged 121.889 seconds in the open field's center, while male WT mice averaged 77.444 seconds ( p = 0.0256).”
Animalsheterozygous knockoutmalesn = 36
Sex‐Specific Differences in Cognition of Mthfr Deficient Mice
AAIC 2025 abstract25 Dec 2025
Homocysteine
upin mice1
1 study
Homocysteine
upin mice1
MTHFR increases homocysteine in mice.
“Reduced enzymatic activity of MTHFR*677C>T prevented homocysteine conversion, elevating blood homocysteine levels.”
Animalshomozygous for humanized Mthfr*677C>T allele, humanized Abeta, APOEe4, and Trem2*R47Hblood
AAIC 2025 abstract24 Dec 2025
Associations
2Alzheimer's disease
upin mice1
1 study
Alzheimer's disease
upin mice1
MTHFR is associated with Alzheimer's disease in mice.
“Aged LOAD2. Mthfr*677C>T mice showed transcriptional and proteomic signatures in the brain that aligned significantly with those observed in human AD.”
AnimalsLOAD2. Mthfr*677C>T micebrain
AAIC 2025 abstract24 Dec 2025
Amyloid positivity
upin humans1OR 4.53
1 study
Amyloid positivity
upin humans1OR 4.53
MTHFR is associated with amyloid positivity in humans (OR = 4.53, 95% CI = (1.01, 19.69), p = 0.04).
“There was a significant interaction for 677T and APOE e4 carrier status (OR = 4.53, 95% CI = (1.01, 19.69), p = 0.04)”
HumansAPOE e4 carriersbrainn = 341
AAIC 2025 abstract24 Dec 2025