DeCure for Familial apolipoprotein C-II deficiency
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for familial apolipoprotein C-II deficiency — 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 moduleFamilial apolipoprotein C-II deficiency 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 familial apolipoprotein c-ii deficiency 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
The abstracts provided do not concern familial apolipoprotein C-II deficiency. The 1988 abstract describes a single case of apolipoprotein C-II deficiency in a patient with triglyceride levels of 400–910 mg/dL, very low LDL and HDL, and low plasma apolipoproteins A-I, A-II, and B. The patient’s mother and four siblings were heterozygotes with roughly half-normal apolipoprotein C-II concentrations and normal triglyceride levels. The authors state the defect is inherited as an autosomal recessive trait. No treatment or intervention was tested.
The remaining three abstracts address entirely different conditions: hyperlipidaemia associated with apolipoprotein B gene variants, familial defective apolipoprotein B-100 caused by the Arg3500Gln mutation, and type III hyperlipoproteinemia. None of these papers investigate apolipoprotein C-II deficiency or any drug for it. The 1992 study explicitly found that the apolipoprotein B-100 mutation was absent in 43 patients with type III hyperlipoproteinemia, concluding it is not involved in that disease.
For familial apolipoprotein C-II deficiency, no drug repurposing evidence is present in these abstracts. What is missing is any clinical trial, any tested pharmacological intervention, any patient stratification beyond the single family described, and any funding directed toward a therapy for this specific recessive disorder.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Current Opinion in Lipidology · 1995 · 24 citations
Hyperlipidaemia associated with genetic variation in the apolipoprotein B gene
AbstractCommon variants at the apolipoprotein B gene locus are associated with hyperlipidaemia, but conflicting data have been presented in the literature concerning the size of the effects and which polymorphisms give the best signal in the different groups of individuals studied. In this review, we will present a critique on the use and interpretation of association studies, with respect to the recent apolipoprotein B DNA polymorphism studies. The impact of these common polymorphisms and rare mutations of apolipoprotein B, primarily the substitution of arginine by glutamine at residue 3500 (R3500Q) that causes familial defective apolipoprotein B100, will also be considered.
Journal of Pediatric Gastroenterology and Nutrition · 2001 · 13 citations
Apolipoprotein B Arg3500Gln Mutation Prevalence in Children With Hypercholesterolemia: A French Multicenter Study
AbstractBACKGROUND: Familial defective apolipoprotein B-100, a dominantly inherited form of hypercholesterolemia caused by a single Arg3500Gln mutation, is silent in childhood but may confer a high risk of cardiovascular disease in adulthood. The objective was to determine the prevalence of familial defective apolipoprotein B-100 in hypercholesterolemic French children and to provide a basis for targeting screening efforts in this population. METHODS: One hundred ninety children attending 13 pediatric clinics distributed throughout France were included based on the presence of type IIa hypercholesterolemia with a plasma low-density lipoprotein-cholesterol level of more than 130 mg/dL. The Arg3500Gln mutation was detected in dried blood spots using a polymerase chain reaction assay combined with enzymatic restriction. RESULTS: Three hyperlipidemia phenotypes were found: monogenic dominant pure hypercholesterolemia (n = 117), polygenic hypercholesterolemia (n = 43), and combined hyperlipidemia (n = 11). Three unrelated children were heterozygous for the Arg3500Gln mutation; all three had monogenic dominant pure hypercholesterolemia (3/94 families; 3.2%), yielding a prevalence of 1.83% (3/164) in hypercholesterolemic children, which is similar to prevalences reported in European adults. CONCLUSIONS: The familial defective apolipoprotein B-100 mutation was common (1/31) in children with a phenotype of familial hypercholesterolemia, supporting screening in this population with the goal of preventing premature cardiovascular events.
Screening for the apolipoprotein B‐100 arginine<sub>3500</sub>→ glutamine mutation in patients with type III hyperlipoproteinemia
AbstractForty-three patients with clinically and biochemically unequivocally defined type III hyperlipoproteinemia (HLP) were screened for the presence of the apolipoprotein (apo) B-100 arginine3500-->glutamine mutation. This receptor-binding defective apolipoprotein B variant is the cause of familial defective apo B-100 (FDB), an autosomal dominantly inherited disease, which leads to increased plasma cholesterol levels and premature atherosclerosis. Neither patient expressed FDB. It is concluded that the gene defect responsible for FDB is not involved in the pathogenesis of type III HLP.
The Journal of Japan Atherosclerosis Society · 1988 · 0 citations · open access
A New Case and an Inheritance of Apolipoprotein C-II Deficiency
AbstractA case of apolipoprotein (apo) C-II deficiency was reported. The patient had high triglyceride levels ranging from 400-910mg/dl. Apo C-II deficiency was tested by immunochemistry, iso-electric focusing and enzyme assay.In this patient plasma lipoproteins (Lps) were mainly chylomicrons, low density Lps (LDL) and high density Lps (HDL) being very low. The findings were compatible with low levels of plasma apo A-I, A-II, B and HDL-cholesterol (HDL-C).In the relatives of the patient his mother and 4 siblings were diagnosed as heterozygotes who had apo C-II concentrations about 50% of normal values and had normal plasma triglyceride levels.The results in this study were confirmed that the defect is inherited as an autosomal recessive trait.
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.
