DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for primary coenzyme Q10 deficiency 8 — screening already-approved drugs against its 2-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease modulePrimary coenzyme Q10 deficiency 8 maps to a 2-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 primary coenzyme q10 deficiency 8 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
coenzyme Q7, hydroxylase (COQ7) — COQ7 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 1sdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 7SSS · 2.4 Å · ligand (1S)-2-{[(2-AMINOETHOXY)(HYDROXY)PHOSPHORYL]OXY}-1-[(PALMITOYLOXY)METHYL]ETHYL STEARATE (PEV). Experimental structure, not a prediction.
What the evidence adds up to
Primary coenzyme Q10 deficiency is a clinically and genetically heterogeneous syndrome associated with five major phenotypes: encephalomyopathy, severe infantile multisystemic disease, nephropathy, cerebellar ataxia, and isolated myopathy. Cerebellar ataxia and syndromic or isolated nephrotic syndrome are the most common presentations. The deficiency predominantly presents in childhood. Causative mutations have been identified in only a small proportion of patients, making phenotype-genotype correlation difficult. Identification is important because muscle symptoms and nephropathy frequently respond to CoQ10 supplementation.
A 2019 report described a 3-month-old boy with feeding difficulties, repeated respiratory infections, convulsions, cerebral atrophy, and growth retardation. Sequencing revealed compound heterozygous COQ4 mutations: c.211G>A (p.A71T, maternal) and c.436T>A (p.F146I, paternal). After treatment with coenzyme Q10, the convulsive symptoms improved significantly. A literature review at that time found 14 total cases with primary coenzyme Q10 deficiency caused by COQ4 gene mutation. Onset ranged from neonatal to 18 years, and clinical manifestations were heterogeneous, including cardiomyopathy, epilepsy, ataxia, cerebellar atrophy, respiratory insufficiency, and growth retardation.
A 2022 report notes that recessive disease-causing variants in genes encoding proteins of the CoQ10 biosynthesis pathway account for 1–2.7% of steroid-resistant nephrotic syndrome cases, and up to 10% of genetic SRNS cases. The disease is described as potentially treatable by CoQ10 supplementation.
No controlled trials have been reported. The number of genetically confirmed cases remains very small, and the natural history of untreated versus treated disease is not systematically documented. What is missing is prospective data on dose, duration, and long-term outcomes of CoQ10 supplementation, particularly for the nephrotic and neurological phenotypes, and a standardised approach to patient stratification by genotype and age at onset.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Molecular Syndromology · 2014 · 44 citations · open access
Clinical Presentations of Coenzyme Q10 Deficiency Syndrome
AbstractCoenzyme Q10 (CoQ10) deficiency is a clinically and genetically heterogeneous syndrome which has been associated with 5 major clinical phenotypes: (1) encephalomyopathy, (2) severe infantile multisystemic disease, (3) nephropathy, (4) cerebellar ataxia, and (5) isolated myopathy. Of these phenotypes, cerebellar ataxia and syndromic or isolated nephrotic syndrome are the most common. CoQ10 deficiency predominantly presents in childhood. To date, causative mutations have been identified in a small proportion of patients, making it difficult to identify a phenotype-genotype correlation. Identification of CoQ10 deficiency is important because the disease, in particular muscle symptoms and nephropathy, frequently responds to CoQ10 supplementation.
Clinical characteristics and genetic analysis of primary coenzyme Q10 deficiency caused by COQ4 gene mutation
AbstractObjective
To explore the clinical and genetic characteristics of primary coenzyme Q10 deficiency caused by coenzyme Q4 (COQ4) variants.
Methods
Clinical data were collected, while COQ4 gene was sequenced.
Results
Here were reported a boy of 3 months old who came to our hospital presented with feeding difficulties, repeated respiratory infections, convulsions for 3 months. He was subsequently diagnosed as cerebral atrophy, and growth retardation. All exons were sequenced.c.211G>A(p.A71T, maternal), c. 436T>A(p.F146I, paternal) were detected. After treatment with coenzyme Q10, the convulsive symptoms improved significantly. Literature review revealed that totally 14 cases with primary coenzyme Q10 deficiency caused by COQ4 gene mutation were reported. The onset age varies from neonatal to 18 years old, and the clinical manifestations are heterogeneous, including cardiomyopathy, epilepsy, ataxia, cerebellar atrophy, respiratory insufficiency, and growth retardation.
Conclusion
For cases with atypical clinical manifestations of primary coenzyme Q10 deficiency, gene detection is helpful for an early diagnosis and treatment.
Key words:
Primary coenzyme Q10 deficiency; COQ4 gene; Gene mutation
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.
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.
