Component
Mitochondrial stress response in PYCR2-deficient human cells
Context-specific entity; species, compartment and exposure are stated on each claim.
1 recorded relationships. Experimental role, claim status and evidence remain attached to each record.
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.
Other things that act on it
Enzymes, hormones, genes, and other components with a recorded effect. These are not nutrients, so they do not count toward the arrows above. Each finding names the chapter that recorded it.
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.
What acts on it
PYCR2 variants in two families were associated with microcephaly and hypomyelination; engineered PYCR2 loss in HEK293FT cells lowered mitochondrial membrane potential and increased oxidative-stress-induced apoptosis.
Experimental context and source evidence
- availability_state
- machinery_impairment Imported condition classification; unverified.
- evidence_access
- Primary abstract
- experimental_model
- Human families, variant-expression studies and CRISPR-modified human cells.
- limitations
- This does not prove that low circulating proline is the disease mechanism or that extra substrate rescues it.
- nutrient_topic
- L-Proline collection; species, compartment, exposure, co-substrates and manipulation remain explicit. · L-Proline
- plain_language
- A related enzyme has a distinct neurological disease pattern.
- primary_references
- Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination. · 2015 · https://pubmed.ncbi.nlm.nih.gov/25865492/ · DOI 10.1016/j.ajhg.2015.03.003
- trigger_kind
- machinery_impairment Imported condition classification; unverified.
L-Proline: synthesis, collagen processing, redox metabolism and cross-nutrient mechanisms (2026-09-19) · lines 158–164
AI-assisted research curation; primary references, access levels and experimental limitations individually identified. Not publisher full text. · supports · Human families, variant-expression studies and CRISPR-modified human cells. · source_derived_draft · unverified_draft
## l-proline-pycr2-genetic A related enzyme has a distinct neurological disease pattern. PYCR2 variants in two families were associated with microcephaly and hypomyelination; engineered PYCR2 loss in HEK293FT cells lowered mitochondrial membrane potential and increased oxidative-stress-induced apoptosis. Model: Human families, variant-expression studies and CRISPR-modified human cells. Limitations: This does not prove that low circulating proline is the disease mechanism or that extra substrate rescues it. Evidence access: Primary abstract Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination. · 2015 · https://pubmed.ncbi.nlm.nih.gov/25865492/ · DOI 10.1016/j.ajhg.2015.03.003
Complete structured claim and evidence
The events it takes part in
A mechanism often involves more than two components. These are the full events, with every participant and its role.
Situations it appears in
Low-supply and faulty-machinery situations recorded in the chapters where this component plays a part.
In the sources
Preserved passages that mention this component, quoted exactly. Open one to read it in context.
Open hypotheses
Proposed ideas that involve this component. They are labeled as hypotheses and do not change any recorded statement.
This is a research prototype built from draft material. It is not medical advice, and its statements still await verification against the original studies.