DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for coenzyme q10 deficiency, primary, 9 — screening already-approved drugs against its 1-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, 9 maps to a 1-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, 9 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
dynein light chain LC8-type 1 (DYNLL1) — DYNLL1 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 apo structuredrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 9NZ7 · 1.41 Å · ligand none (apo structure). Experimental structure, not a prediction.
What the evidence adds up to
In 2013 a non-radioactive method was developed to measure CoQ10 biosynthesis in fibroblasts, using deuterium-labelled mevalonate or carbon-13-labelled p-hydroxybenzoate. The reference range for 13C6-CoQ10 biosynthesis was 0.83–1.1 nmol per unit of citrate synthase, and for 2H3-CoQ10 it was 0.09–0.17. Among 16 patient fibroblast lines tested, nine showed decreased biosynthesis; the remaining seven had normal rates and were presumed to have secondary rather than primary deficiency. The method was validated on one patient with COQ2 mutations and six patients with secondary deficiency from other inborn errors of metabolism.
A 2015 review states that oral CoQ10 supplementation can correct CoQ10 deficiency by raising tissue levels, and that no serious side effects have been reported. It lists the clinical presentations of severe primary CoQ10 deficiency as severe infantile multisystemic disease, encephalomyopathy, isolated myopathy, cerebellar ataxia, and Leigh syndrome with growth retardation. The same review acknowledges that more clinical trials are needed to understand CoQ10 efficacy.
A 2022 report on primary CoQ10 deficiency as a cause of steroid-resistant nephrotic syndrome notes that recessive variants in CoQ10 biosynthesis genes account for 1–2.7% of all SRNS cases and up to 10% of genetic SRNS cases. It describes the condition as potentially treatable by CoQ10 supplementation, but provides no new trial data or patient outcomes.
What remains missing are prospective controlled trials that measure clinical endpoints—renal function, neurological progression, survival—in genetically confirmed primary CoQ10 deficiency patients treated with standardised doses and formulations. The 2013 diagnostic method has not been linked to treatment response in a trial setting. Patient stratification by genotype and age at treatment initiation is not yet supported by outcome data. Funding for such trials, rather than for further case reports or reviews, is the clear gap.
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.
International Journal of Research in Medical Sciences · 2015 · 7 citations · open access
Coenzyme Q10 therapy in current clinical practice
AbstractCoenzyme Q10 (CoQ10) is a naturally occurring, lipid soluble, essential compound and is also known as ubiquinone. CoQ10 acts as an intermediate of the electron transport chain situated in membrane of mitochondria and vital for ATP production and cellular respiration. CoQ10 also serves as an intercellular antioxidant. All the clinical use of CoQ10 are based upon these two functions. CoQ10 levels are altered in a number of oncological as well as non-oncological diseases. Furthermore, recent data indicate that CoQ10 has an impact on the expression of many genes involved in metabolism, cellular transport, transcription control, and cell signaling, making CoQ10 a potent gene regulator. CoQ10 supplementation is useful in diseases associated with CoQ10 deficiency which includes primary and secondary CoQ10 deficiencies, fibromyalgia, diabetes mellitus, mitochondrial diseases, neurodegenerative diseases, cardiovascular disease, cancer, male infertility and periodontal disease. Clinical presentations of severe CoQ10 deficiency include severe infantile multisystemic disease, encephalomyopathy, isolated myopathy cerebellar ataxia and Leigh syndrome with growth retardation. Oral CoQ10 administration can correct CoQ10 deficiency since it increases CoQ10 tissue levels. CoQ10 therapy has no serious side effects in humans and new formulations have been developed that increase CoQ10 absorption and tissue distribution. Future trends involving CoQ10 in many diseases needs more clinical trials for better understanding of CoQ10 efficacy.
Kidney International Reports · 2022 · 0 citations · open access
POS-832 PRIMARY CoQ10 DEFICIENCY: A RARE, TREATABLE HEREDITARY CAUSE OF NEPHROTIC SYNDROME
AbstractPrimary Coenzyme Q10 deficiency is a rare mitochondriopathy with a wide spectrum of organ involvement, including steroid-resistant nephrotic syndrome (SRNS). Recessive disease-causing variants in genes encoding proteins of the CoQ10 biosynthesis pathway accounts for 1-2.7% of SRNS cases, and in up to 10% of genetic SRNS cases. The disease is potentially treatable by CoQ10 supplementation.
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.
