MTHFR

  • 3 independent labs in 1 country
  • Humans1
  • Animals2

Effects

4

Cognitive function

no changein mice1

1 study
  1. 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
  1. 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
  1. 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
  1. 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

    A Gene X Environment Study of a Novel Preclinical Mouse Model: The Humanized Mthfr*677C>T Allele and Inorganic Arsenic in Late‐Onset Alzheimer's Disease Progression

    AAIC 2025 abstract24 Dec 2025

More on Homocysteine

Associations

2

Alzheimer's disease

upin mice1

1 study
  1. 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

    A Gene X Environment Study of a Novel Preclinical Mouse Model: The Humanized Mthfr*677C>T Allele and Inorganic Arsenic in Late‐Onset Alzheimer's Disease Progression

    AAIC 2025 abstract24 Dec 2025

More on Alzheimer's disease

Amyloid positivity

upin humans1OR 4.53

1 study
  1. 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

    MTHFR 1298C and 677T Interactions with APOE e4 and White Matter Hyperintensity Volume on Amyloid‐Positive Status in Cognitively Unimpaired Older Adults

    AAIC 2025 abstract24 Dec 2025

More on Amyloid positivity

Latest

Nov 2025: 0Dec 2025: 3Jan 2026: 0Feb 2026: 0Mar 2026: 0Apr 2026: 0May 2026: 0Jun 2026: 0Jul 2026: 0Aug 2026: 0Sep 2026: 0Oct 2026: 03 in 12 months