Component
Human pathogenic COASY genotypes in the Dusi 2014 cases
The pathogenic allele/genotype states carried by the two unrelated Dusi 2014 COASY cases, used to qualify patient-derived fibroblast measurements. This cohort genotype state is distinct from the normal COASY protein and from the separately represented p.Arg499Cys protein state.
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 it acts on
Free-CoA levels in fibroblasts from the two COASY cases were not significantly different from the control in the reported HPLC analysis.
Experimental context and source evidence
- availability_state
- machinery_impairment Imported condition classification; unverified.
- cross_nutrient
- false
- experimental_model
- Two unrelated human NBIA cases, primary fibroblasts, recombinant wild-type and variant COASY DPCK domains and yeast studies
- exposure
- Two affected individuals versus one healthy-control fibroblast line; four independent experiments shown in Fig. 6.
- limitations
- Small cell-line comparison and an absence of statistical significance, not proof of equal CoA in all compartments or tissues. Acetyl-CoA was significantly lower in one case; total-CoA trends and free-CoA results must not be conflated.
- nutrient_topic
- Pantothenic acid (vitamin B5) research collection; topical membership is not evidence of a direct dietary effect. · Pantothenate (vitamin B5)
- organism
- Homo sapiens
- plain_language
- A severe enzyme defect did not imply an absent whole-cell free-CoA pool in these fibroblasts.
- primary_references
- [b5-bio-coasy2014] Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation. (2014). https://pubmed.ncbi.nlm.nih.gov/24360804/ DOI: 10.1016/j.ajhg.2013.11.008
- tissue_or_cell_type
- Human primary skin fibroblasts
- trigger_kind
- machinery_impairment Imported condition classification; unverified.
Pantothenic acid (vitamin B5): coenzyme A, deficiency and nutrient interactions (2026-09-17) · lines 743–754
AI-assisted literature curation; primary study URLs and scope retained in the document and extraction. Not publisher full text. · supports · Two unrelated human NBIA cases, primary fibroblasts, recombinant wild-type and variant COASY DPCK domains and yeast studies · source_derived_draft · unverified_draft
### b5-bio-coasy-fibroblast-free-coa Free-CoA levels in fibroblasts from the two COASY cases were not significantly different from the control in the reported HPLC analysis. Condition category: machinery_impairment nutrient_topic: Pantothenic acid (vitamin B5) research collection; topical membership is not evidence of a direct dietary effect. plain_language: A severe enzyme defect did not imply an absent whole-cell free-CoA pool in these fibroblasts. organism: Homo sapiens tissue_or_cell_type: Human primary skin fibroblasts experimental_model: Two unrelated human NBIA cases, primary fibroblasts, recombinant wild-type and variant COASY DPCK domains and yeast studies limitations: Small cell-line comparison and an absence of statistical significance, not proof of equal CoA in all compartments or tissues. Acetyl-CoA was significantly lower in one case; total-CoA trends and free-CoA results must not be conflated. exposure: Two affected individuals versus one healthy-control fibroblast line; four independent experiments shown in Fig. 6. cross_nutrient: false [b5-bio-coasy2014] Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation. (2014). https://pubmed.ncbi.nlm.nih.gov/24360804/ DOI: 10.1016/j.ajhg.2013.11.008
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.