DeCure for Familial isolated deficiency of vitamin E
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for familial isolated deficiency of vitamin E — 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 moduleFamilial isolated deficiency of vitamin E 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
approvedVitamin EApproved drug
Structures already discussed alongside familial isolated deficiency of vitamin e in the retrieved literature, rendered from public PubChem SMILES. Which drugs appear here reflects the evidence found, not a ranked prediction.
Molecular view
First Structural Evidence of a Specific Inhibition of Phospholipase A2 by Vitamin E and its Implications in Inflammation: Crystal Structure of the Complex Formed between Phospholipase A2 and Vitamin E at 1.8 A Resolution. — Vitamin E has a real, experimentally solved structure in complex with this target (PDB 1KPM, 1.8 Å). This is the drug's own deposited structure, not a prediction, and confirms it is a structurally characterised molecule rather than an untested guess.
Loading structure…
helix sheet vitdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 1KPM · 1.8 Å · ligand Vitamin E (VIT). Experimental structure, not a prediction.
What the evidence adds up to
A 1979 report described a 7-year-old boy with severe malabsorption since birth, progressive external ophthalmoplegia, proximal muscle weakness, peripheral neuropathy, hyporeflexia, and bilateral Babinski signs. His plasma vitamin E was 8 microgram per deciliter (normal 550–1500). After 16 months of oral water-solubilised vitamin E at 400 IU daily (more than 50 times the normal intake), plasma vitamin E rose to 350 microgram per deciliter, sarcoplasmic enzyme activities declined, and there was clinical improvement. In 1985 a 72-year-old man with blind loop syndrome after gastric surgery had severe malabsorption, progressive retinopathy, and spinocerebellar degeneration; vitamin E was nearly undetectable in serum and profoundly low in adipose tissue. Antibiotics improved vitamin E blood levels initially, and additional vitamin E supplementation was followed by clinical improvement.
A 1994 study of a consanguineous family identified 4 of 8 siblings as homozygous for familial isolated vitamin E deficiency based on vitamin E determinations and markers linked to the AVED locus on chromosome 8q. Vitamin E measurements in lipoprotein fractions and liver biopsy after an oral load suggested that free diffusion of vitamin E between compartments was possible and even increased, but a high-affinity ligand appeared to be lacking in hepatic recycling or in both hepatic and other vitamin E compartments. Five-year substitutive treatment was successful only in pre- or paucisymptomatic patients. The authors stated that serum vitamin E must be measured in any unexplained progressive ataxia.
A 1976 review noted that in many mammalian species vitamin E deficiency causes infertility, liver necrosis, and muscular dystrophy, but stated that it is not known how vitamin E acts; it may form a complex with biological membranes and stabilise their phospholipids, or act as a scavenger for free radicals produced during peroxidation of unsaturated lipids. What remains missing is a controlled trial of vitamin E in familial isolated deficiency with standardised dosing and outcome measures, systematic long-term follow-up of treated versus untreated homozygotes, and a molecular understanding of the defective high-affinity ligand that would allow targeted therapy rather than high-dose supplementation.
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 · 1979 · 81 citations
Reversibility of human myopathy caused by vitamin E deficiency
AbstractAlthough a neuromuscular syndrome has been induced experimentally by vitamin E deficiency, a human syndrome has not yet been documented. This report describes a 7-year-old boy with severe malabsorption since birth who presented with progressive external ophthalmoplegia, proximal muscle weakness, peripheral neuropathy, hyporeflexia, and bilateral Babinski signs. Abnormalities on neurologic examination included elevated creatine phosphokinase and aldolase, slowed distal sensory latencies, type II muscle fiber atrophy, and a plasma vitamin E level of 8 microgram per deciliter (normal, 550-1500 microgram per deciliter). Treatment with oral water-solubilized vitamin E (400 IU daily; greater than 50 times the normal daily intake) was begun, with repeat laboratory studies at 3-month intervals. Over a 16-month period, plasma vitamin E content gradually increased to 350 microgram per deciliter, associated with declining sarcoplasmic enzyme activities and clinical improvement.
Blind loop syndrome, vitamin E malabsorption, and spinocerebellar degeneration
AbstractA 72-year-old man had severe malabsorption, progressive retinopathy, and spinocerebellar degeneration 32 years after gastric surgery, blind loop formation, and intestinal bacterial overgrowth. Clinical and pathologic features were typical of vitamin E deficiency; vitamin E was nearly undetectable in serum and profoundly low in adipose tissue. Vitamin E blood levels initially improved on treatment with antibiotics; after additional vitamin E supplementation, there was clinical improvement.
Journal of Inherited Metabolic Disease · 1994 · 38 citations
Familial isolated vitamin E deficiency. Extensive study of a large family with a 5‐year therapeutic follow‐up
AbstractA major neurological deterioration, beginning with ataxia, led to the diagnosis of familial vitamin E deficiency in a girl. Based upon vitamin E determinations, 4/8 members of the (consanguineous) sibship were considered to be homozygous. Homozygosity was also found for the alleles of six markers linked to the AVED locus, recently identified in similar Tunisian or Sicilian families on chromosome 8q. Measures of vitamin E in lipoprotein fractions and in liver biopsy after vitamin E oral load suggested that free diffusion of vitamin E between the different compartments was possible and even increased. However, a high-affinity ligand seemed to be lacking, either in the hepatic recycling of vitamin E or in both the hepatic and the other vitamin E compartments. The 5-year substitutive treatment was successful only in the pre- or paucisymptomatic patients. Serum vitamin E must be measured in any unexplained progressive ataxia.
Drug and Therapeutics Bulletin · 1976 · 2 citations · open access
Therapeutic uses of vitamin E
AbstractIn many mammalian species deficiency of vitamin E causes a wide variety of serious disorders including infertility, liver necrosis and muscular dystrophy. It is not known how vitamin E acts but it may form a complex with biological membranes and thereby stabilise their phospholipids. 1 It may also act as a scavenger for free radicals produced during peroxidation of unsaturated lipids. 2 3
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.
