Component

Human MTHFD1 gene

Gene-level perturbation target; individual exposure and alleles are recorded in scenario metadata.

3 recorded relationships. Experimental role, claim status and evidence remain attached to each record.

Read recorded mechanisms Open recursive mind map

How nutrients influence it

Every nutrient with a recorded effect on this component, credited to the nutrient that acted rather than the chapter that recorded it. Open a nutrient to see the findings and the conditions they were measured under.

How nutrients reach it in more than one step

Chains of two or more recorded steps that end here, grouped by the nutrient they start from. Each step is a separate finding, so a chain is a route a mechanism could take, not proof that it does.

Tracing routes…

What it does

Every recorded relationship this component is part of, grouped by its role. Plain wording comes first; the technical statement follows.

Recorded relationships

What it acts on

  1. MTHFD1-deficient patient fibroblasts contained more uracil in DNA than both control lines.

    Human MTHFD1 gene → Uracil incorporation in nuclear DNA source_derived_draftungraded
    Experimental context and source evidence
    availability_state
    machinery_impairment Imported condition classification; unverified.
    experimental_model
    DNA uracil assay
    exposure
    Assay conditions described in the linked primary study.
    limitations
    Fibroblast endpoint does not itself prove the cause of clinical immunodeficiency.
    nutrient_topic
    Folate and folic acid research collection; topical membership is not evidence of a direct dietary effect. · Folate (vitamin B9)
    organism
    Homo sapiens
    plain_language
    The enzyme defect was accompanied by a DNA-base imbalance.
    primary_references
    [field-2015] Human mutations in methylenetetrahydrofolate dehydrogenase 1 impair nuclear de novo thymidylate biosynthesis (2015). https://pubmed.ncbi.nlm.nih.gov/25548164/ DOI: 10.1073/pnas.1414555112
    tissue_or_cell_type
    WG3607 fibroblasts
    trigger_kind
    machinery_impairment Imported condition classification; unverified.

    Folate and folic acid: mechanisms, deficiency and nutrient interactions (2026-09-17) · lines 1182–1192

    AI-assisted literature curation; primary study URLs and scope retained in the document and extraction. Not publisher full text. · supports · DNA uracil assay · source_derived_draft · unverified_draft

    ### mthfd1-patient-dna-uracil MTHFD1-deficient patient fibroblasts contained more uracil in DNA than both control lines. Condition category: machinery_impairment nutrient_topic: Folate and folic acid research collection; topical membership is not evidence of a direct dietary effect. plain_language: The enzyme defect was accompanied by a DNA-base imbalance. organism: Homo sapiens tissue_or_cell_type: WG3607 fibroblasts experimental_model: DNA uracil assay limitations: Fibroblast endpoint does not itself prove the cause of clinical immunodeficiency. exposure: Assay conditions described in the linked primary study. [field-2015] Human mutations in methylenetetrahydrofolate dehydrogenase 1 impair nuclear de novo thymidylate biosynthesis (2015). https://pubmed.ncbi.nlm.nih.gov/25548164/ DOI: 10.1073/pnas.1414555112
    Complete structured claim and evidence

  2. Patient fibroblasts showed roughly half the formate-derived contribution to dTMP measured in control cells.

    Human MTHFD1 gene → Nuclear de novo thymidylate synthesis source_derived_draftungraded
    Experimental context and source evidence
    availability_state
    machinery_impairment Imported condition classification; unverified.
    experimental_model
    Stable-isotope tracing
    exposure
    Assay conditions described in the linked primary study.
    limitations
    One genotype; isotope ratio is not a whole-body folate measurement.
    nutrient_topic
    Folate and folic acid research collection; topical membership is not evidence of a direct dietary effect. · Folate (vitamin B9)
    organism
    Homo sapiens
    plain_language
    This inherited enzyme defect reduced one carbon supply for a DNA base.
    primary_references
    [field-2015] Human mutations in methylenetetrahydrofolate dehydrogenase 1 impair nuclear de novo thymidylate biosynthesis (2015). https://pubmed.ncbi.nlm.nih.gov/25548164/ DOI: 10.1073/pnas.1414555112
    tissue_or_cell_type
    WG3607 fibroblasts
    trigger_kind
    machinery_impairment Imported condition classification; unverified.

    Folate and folic acid: mechanisms, deficiency and nutrient interactions (2026-09-17) · lines 1170–1180

    AI-assisted literature curation; primary study URLs and scope retained in the document and extraction. Not publisher full text. · supports · Stable-isotope tracing · source_derived_draft · unverified_draft

    ### mthfd1-patient-dtmp Patient fibroblasts showed roughly half the formate-derived contribution to dTMP measured in control cells. Condition category: machinery_impairment nutrient_topic: Folate and folic acid research collection; topical membership is not evidence of a direct dietary effect. plain_language: This inherited enzyme defect reduced one carbon supply for a DNA base. organism: Homo sapiens tissue_or_cell_type: WG3607 fibroblasts experimental_model: Stable-isotope tracing limitations: One genotype; isotope ratio is not a whole-body folate measurement. exposure: Assay conditions described in the linked primary study. [field-2015] Human mutations in methylenetetrahydrofolate dehydrogenase 1 impair nuclear de novo thymidylate biosynthesis (2015). https://pubmed.ncbi.nlm.nih.gov/25548164/ DOI: 10.1073/pnas.1414555112
    Complete structured claim and evidence

  3. Formate incorporation through de novo purine synthesis was not significantly altered in these MTHFD1-deficient fibroblasts.

    Human MTHFD1 gene → De novo purine nucleotide synthesis source_derived_draftungraded
    Experimental context and source evidence
    availability_state
    machinery_impairment Imported condition classification; unverified.
    experimental_model
    Formate suppression assay
    exposure
    Assay conditions described in the linked primary study.
    limitations
    Preservation in this genotype does not establish dispensability of MTHFD1.
    nutrient_topic
    Folate and folic acid research collection; topical membership is not evidence of a direct dietary effect. · Folate (vitamin B9)
    organism
    Homo sapiens
    plain_language
    Different folate-dependent pathways were not equally impaired.
    primary_references
    [field-2015] Human mutations in methylenetetrahydrofolate dehydrogenase 1 impair nuclear de novo thymidylate biosynthesis (2015). https://pubmed.ncbi.nlm.nih.gov/25548164/ DOI: 10.1073/pnas.1414555112
    tissue_or_cell_type
    WG3607 fibroblasts
    trigger_kind
    machinery_impairment Imported condition classification; unverified.

    Folate and folic acid: mechanisms, deficiency and nutrient interactions (2026-09-17) · lines 1194–1204

    AI-assisted literature curation; primary study URLs and scope retained in the document and extraction. Not publisher full text. · supports · Formate suppression assay · source_derived_draft · unverified_draft

    ### mthfd1-patient-purine-preservation Formate incorporation through de novo purine synthesis was not significantly altered in these MTHFD1-deficient fibroblasts. Condition category: machinery_impairment nutrient_topic: Folate and folic acid research collection; topical membership is not evidence of a direct dietary effect. plain_language: Different folate-dependent pathways were not equally impaired. organism: Homo sapiens tissue_or_cell_type: WG3607 fibroblasts experimental_model: Formate suppression assay limitations: Preservation in this genotype does not establish dispensability of MTHFD1. exposure: Assay conditions described in the linked primary study. [field-2015] Human mutations in methylenetetrahydrofolate dehydrogenase 1 impair nuclear de novo thymidylate biosynthesis (2015). https://pubmed.ncbi.nlm.nih.gov/25548164/ DOI: 10.1073/pnas.1414555112
    Complete structured claim and evidence

In the sources

Preserved passages that mention this component, quoted exactly. Open one to read it in context.

    This is a research prototype built from draft material. It is not medical advice, and its statements still await verification against the original studies.

    Evidence, AI assistance and curation standards