DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for coenzyme Q10 deficiency, primary, 1 — screening already-approved drugs against its 4-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleCoenzyme Q10 deficiency, primary, 1 maps to a 4-gene Open Targets module — the target space DeCure's AI scientist screens approved drugs against.
DeCure.ai methodSignature reversal (LINCS) plus network proximity (STRING) rank already-approved drugs likely to perturb this module — the same engine that produces DeCure.ai's repurposing hypotheses.
Repurposing thesisScreening approved medicines against this disease module, then publishing the evidence for the strongest candidate. Known pharmacology and human exposure data make the first question sharper — they do not establish safety or efficacy in a new indication.
Research record
01
ResearchComing soon
Candidate research + dossier — target rationale, drug-repurposing thesis and evidence pack.proof: Published dossier + on-chain hash
02
ValidationComing soon
In-vitro biological validation at a contract research org (CRO).proof: CRO contract + in-vitro report
03
Peer review & paperComing soon
Peer-reviewed paper published open-access (preprint + journal).proof: DOI + open-access link + on-chain hash
Current lead
No approved-drug candidate for coenzyme q10 deficiency, primary, 1 is corroborated in the literature DeepSearch retrieved. Some conditions are managed with non-pharmacological care — a device, surgery or physical therapy — rather than a medicine; that may be the case here, or the literature we found may simply be too sparse yet to support a drug-repurposing angle.
Molecular view
aprataxin (APTX) — APTX is one of the genes genetically linked to this disease in Open Targets — shown as context, not as a drug target we're pursuing: no approved-drug candidate for this disease is yet corroborated in the literature we found.
Loading structure…
helix sheet ampdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 4NDH · 1.848 Å · ligand ADENOSINE MONOPHOSPHATE (AMP). Experimental structure, not a prediction.
What the evidence adds up to
A 2013 study developed a non-radioactive method to measure coenzyme Q₁₀ biosynthesis in fibroblasts, using labelled precursors and mass spectrometry. The reference range for biosynthesis from (13)C₆-p-hydroxybenzoate was 0.97 (0.83–1.1) nmol/Unit of citrate synthase, and from (2)H₃-mevalonate was 0.13 (0.09–0.17) nmol/Unit of citrate synthase. The method was validated in one patient with COQ2 mutations and six patients with secondary CoQ₁₀ deficiency due to other inborn errors of metabolism. Among 16 further patient fibroblasts tested, nine showed decreased CoQ₁₀ biosynthesis, suggesting primary deficiency, while the remainder had normal rates and were considered likely secondary. The authors concluded the method could help stratify patients with these treatable mitochondrial diseases, but noted that genetic analysis of COQ genes is still needed for a definitive diagnosis in the nine patients with low biosynthesis.
Two 2013 review articles describe coenzyme Q₁₀ as a vitamin-like substance essential for cellular energy production, particularly in tissues with high energy demand such as the heart. They state that CoQ₁₀ deficiency has been identified as a risk factor for cardiovascular and neurological diseases, and that the articles provide an overview of CoQ₁₀ pharmacology with emphasis on its role in prevention and treatment of cardiovascular disorders. These reviews do not present original patient data or clinical trial results for primary CoQ₁₀ deficiency.
No clinical trial data for primary coenzyme Q₁₀ deficiency type 1 are presented in these abstracts. The diagnostic method described requires further validation in larger patient groups and genetic confirmation. What remains missing is a prospective trial of CoQ₁₀ supplementation in genetically confirmed primary deficiency patients, with standardised dosing and long-term clinical outcomes, and funding to support such a study.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Journal of Inherited Metabolic Disease · 2013 · 30 citations
Characterization of CoQ<sub>10</sub> biosynthesis in fibroblasts of patients with primary and secondary CoQ<sub>10</sub> deficiency
AbstractPrimary coenzyme Q₁₀ (CoQ₁₀) deficiencies are associated with mutations in genes encoding enzymes important for its biosynthesis and patients are responsive to CoQ₁₀ supplementation. Early treatment allows better prognosis of the disease and therefore, early diagnosis is desirable. The complex phenotype and genotype and the frequent secondary CoQ₁₀ deficiencies make it difficult to achieve a definitive diagnosis by direct quantification of CoQ₁₀. We developed a non-radioactive methodology for the quantification of CoQ₁₀ biosynthesis in fibroblasts that allows the identification of primary deficiencies. Fibroblasts were incubated 72 h with 28 μmol/L (2)H₃-mevalonate or 1.65 mmol/L (13)C₆-p-hydroxybenzoate. The newly synthesized (2)H₃- and (13)C₆- labelled CoQ₁₀ were analysed by high performance liquid chromatography-tandem mass spectrometry. The mean and the reference range for (13)C₆-CoQ₁₀ and (2)H₃-CoQ₁₀ biosynthesis were 0.97 (0.83-1.1) and 0.13 (0.09-0.17) nmol/Unit of citrate synthase, respectively. We validated the methodology through the study of one patient with COQ2 mutations and six patients with CoQ₁₀ deficiency secondary to other inborn errors of metabolism. Afterwards we investigated 16 patients' fibroblasts and nine showed decreased CoQ₁₀ biosynthesis. Therefore, the next step is to study the COQ genes in order to reach a definitive diagnosis in these nine patients. In the patients with normal rates the deficiency is probably secondary. In conclusion, we have developed a non-invasive non-radioactive method suitable for the detection of defects in CoQ₁₀ biosynthesis, which offers a good tool for the stratification of patients with these treatable mitochondrial diseases.
British Journal of Cardiac Nursing · 2013 · 3 citations
The pharmacology of coenzyme Q<sub>10</sub>: its relevance to health
AbstractCoenzyme Q 10 (CoQ 10 ) is a vitamin-like substance that plays a key role in the metabolic process, supplying all cells with energy. Tissues with a high energy requirement, such as the heart, are particularly dependent on maintaining an adequate supply of CoQ 10 for normal functioning. Deficiency of CoQ 10 has been identified as a risk factor for a variety of disorders, including cardiovascular and neurological diseases. The objective of this article is therefore to provide a brief overview of the pharmacology of CoQ 10 , with particular emphasis on its role in the prevention and treatment of cardiovascular disorders.
Pharmacology of coenzyme Q10: Relevance to cardiovascular and other disorders
AbstractCoenzyme Q10 (CoQ10) is a vitamin-like substance that plays a key role in the metabolic process that supplies all cells with energy. Tissues with a high energy requirement, such as the heart, are particularly dependent on maintaining an adequate supply of CoQ10 for normal functioning. Deficiency of CoQ10 has been identified as a risk factor for a variety of disorders, including cardiovascular and neurological diseases. The objective of this article is, therefore, to provide a brief overview of the pharmacology of CoQ10, with particular emphasis on its role in the prevention and treatment of cardiovascular disorders.
Disease module: DeepOracle (Open Targets). Structures: RDKit from PubChem SMILES. Literature: retrieved by DeepSearch across 234,678,978 indexed works (targeted per-candidate search), resolved on OpenAlex.
DeCure is a research and publication project, not medical advice and not a treatment. "DeCure for X" describes a research goal, not a claim that a cure exists. Backing a cure is a contribution to fund the research — it is not an investment, and confers no yield, royalty, equity or IP ownership. Papers are published open-access by the DeCure.ai DAO.
