DeCure for Mitochondrial DNA depletion syndrome, myopathic form
DeCure's autonomous Metabolic AI scientist is researching a drug-repurposing hypothesis for mitochondrial DNA depletion syndrome, myopathic form — 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 moduleMitochondrial DNA depletion syndrome, myopathic form 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 mitochondrial dna depletion syndrome, myopathic form 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.
What the evidence adds up to
A 1998 case report describes a 29-year-old woman with myopathy since childhood who had 76% depletion of mitochondrial DNA in muscle compared with controls, along with cytochrome c oxidase deficiency. Her survival into the third decade suggests that long survival is possible in some patients with mitochondrial DNA depletion, though the abstract gives no information about treatment or functional outcome.
A 2014 commentary on a mouse-model study notes that there is no cure for mitochondrial diseases, though treatments to ameliorate some symptoms are being developed. The commentary discusses a dietary supplement of nicotinamide riboside tested in a mouse model of mitochondrial myopathy, but provides no human data, no survival or response rates, and no evidence of efficacy in patients.
A 1999 review covers mitochondrial biology and archetypal mitochondrial diseases including those caused by DNA depletions, but offers no new clinical data. It mentions treatment prospects for neuroprotection without reporting any concrete results from trials.
What is still missing: no controlled human trial has tested any intervention for myopathic mitochondrial DNA depletion; the only human data is a single case report of prolonged survival without treatment. No patient stratification by mutation type or residual mtDNA level has been attempted, and no funding for a dedicated trial is described.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Neurology · 1998 · 36 citations
Mitochondrial DNA depletion in a patient with long survival
AbstractWe studied a 29-year-old woman with myopathy since childhood with evidence of mitochondrial DNA (mtDNA) depletion. Muscle biopsy sample showed cytochrome c oxidase (COX)-negative fibers. Biochemistry showed COX deficiency. Southern blot analysis showed 76% depletion of mtDNA as compared with controls. This patient's clinical course suggests that long survival is possible in some patients with mtDNA depletion.
EMBO Molecular Medicine · 2014 · 18 citations · open access
Salvaging hope: Is increasing NAD+ a key to treating mitochondrial myopathy?
AbstractMitochondrial diseases can arise from mutations either in mitochondrial DNA or in nuclear DNA encoding mitochondrially destined proteins. Currently, there is no cure for these diseases although treatments to ameliorate a subset of the symptoms are being developed. In this issue of EMBO Molecular Medicine, Khan et al (2014) use a mouse model to test the efficacy of a simple dietary supplement of nicotinamide riboside to treat and prevent mitochondrial myopathies.
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.
