DeCure's autonomous Cardio AI scientist is researching a drug-repurposing hypothesis for arterial tortuosity syndrome — 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 moduleArterial tortuosity syndrome 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 arterial tortuosity syndrome 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 67-year-old man with arterial tortuosity syndrome and a history of hypertension presented with bilateral giant fusiform intracranial aneurysms of the internal carotid artery, aneurysmal dilatation of the left main coronary artery, and aneurysmal dilation of the aorta and bilateral iliac arteries, in the absence of skin and soft-tissue abnormalities. His syncope was attributed to transient complete heart block, and he was given aspirin for stroke prevention and losartan for blood pressure control. The authors of that 2011 case report noted that losartan inhibits transforming growth factor β signalling and suggested it might modulate disease expression in this syndrome. A 2020 case report described successful percutaneous balloon angioplasty for pulmonary hypertension in an adult with ATS, and a 2025 report described successful surgical repair of the descending aorta in a ten-day-old neonate who presented with multiorganic failure.
ATS is an autosomal recessive connective tissue disorder caused by pathogenic variants in the SLC2A10 gene, which encodes the glucose transporter GLUT10. The 2019 review identified GLUT10 as an intracellular transporter of dehydroascorbic acid, contributing to collagen and elastin cross-linking, redox homeostasis, and epigenetic regulation. The same review stated that the molecular mechanisms linking disrupted GLUT10 activity to arterial malformations remain largely unknown. The 2023 review noted that ATS manifests primarily in childhood, with arterial abnormalities increasing shear stress and causing complications such as atherosclerosis and strokes, and that arterial tortuosity may serve as a prognostic indicator for adverse cardiovascular events.
The 2000 report described a patient with ATS who had soft skin, joint laxity, severe keratoconus, and diffuse tortuosity of the carotids and intracranial arteries; that patient’s probably affected brother and sister died at an early age. The 2019 review called for centralisation of clinical, treatment, and outcome data to enable better management, and for establishment of representative animal disease models. The 2023 review stated that management requires a multidisciplinary approach with surveillance and prevention, but that targeted therapies remain a hope rather than a reality.
What is still missing is a centralised registry of patients with standardised treatment and outcome data, representative animal models to study the pathomechanisms, and any clinical trial of a specific drug or intervention beyond single case reports. No drug has been tested in a controlled fashion for ATS, and the natural history across the lifespan remains incompletely characterised.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Archives of Neurology · 2011 · 32 citations · open access
Arterial Tortuosity Syndrome With Multiple Intracranial Aneurysms
AbstractOBJECTIVE: To report a new manifestation of the rare connective tissue disorder arterial tortuosity syndrome in the absence of skin and soft-tissue abnormalities and with bilateral, giant fusiform intracranial aneurysms. DESIGN: Case report. SETTING: University teaching hospital. PATIENT: A 67-year-old man with a history of hypertension presented to medical attention after a syncopal episode. Imaging revealed incidental, bilateral, giant fusiform intracranial aneurysms of the internal carotid artery at their junction of the circle of Willis. There was also aneurysmal dilatation of the left main coronary artery ectasia and aneurysmal dilation of the aorta and bilateral iliac arteries, suggestive of arterial tortuosity syndrome. RESULTS: The patient's syncope was attributed to transient complete heart block for which a permanent pacemaker was placed. The patient started taking aspirin for stroke prevention and losartan potassium for blood pressure control. CONCLUSIONS: To our knowledge, we present the first case of arterial tortuosity syndrome with marked bilateral intracranial artery dilation in the absence of concurrent skin and soft tissue abnormalities. Workup may include systemic vascular imaging to characterize the extent of disease. Antiplatelet therapy can be used for stroke prevention by reducing the risk of clot formation in ectatic vessels with altered hemodynamics and subsequent embolism. Losartan is known to inhibit transforming growth factor β signaling and may be a specific modulator of disease expression in this syndrome.
Antioxidants and Redox Signaling · 2019 · 21 citations · open access
Arterial Tortuosity Syndrome: An Ascorbate Compartmentalization Disorder?
AbstractSignificance: Cardiovascular disorders are the most important cause of morbidity and mortality in the Western world. Monogenic developmental disorders of the heart and vessels are highly valuable to study the physiological and pathological processes in cardiovascular system homeostasis. The arterial tortuosity syndrome (ATS) is a rare, autosomal recessive connective tissue disorder showing lengthening, tortuosity, and stenosis of the large arteries, with a propensity for aneurysm formation. In histopathology, it associates with fragmentation and disorganization of elastic fibers in several tissues, including the arterial wall. ATS is caused by pathogenic variants in SLC2A10 encoding the facilitative glucose transporter (GLUT)10. Critical Issues: Although several hypotheses have been forwarded, the molecular mechanisms linking disrupted GLUT10 activity with arterial malformations are largely unknown. Recent Advances: The vascular and systemic manifestations and natural history of ATS patients have been largely delineated. GLUT10 was identified as an intracellular transporter of dehydroascorbic acid, which contributes to collagen and elastin cross-linking in the endoplasmic reticulum, redox homeostasis in the mitochondria, and global and gene-specific methylation/hydroxymethylation affecting epigenetic regulation in the nucleus. We revise here the current knowledge on ATS and the role of GLUT10 within the compartmentalization of ascorbate in physiological and diseased states. Future Directions: Centralization of clinical, treatment, and outcome data will enable better management for ATS patients. Establishment of representative animal disease models could facilitate the study of pathomechanisms underlying ATS. This might be relevant for other forms of vascular dysplasia, such as isolated aneurysm formation, hypertensive vasculopathy, and neovascularization. Antioxid. Redox Signal. 34, 875–889.
Arterial Tortuosity Syndrome: Unraveling a Rare Vascular Disorder
AbstractArterial tortuosity syndrome (ATS) is a rare genetic disorder characterized by abnormal twists and turns of arteries, leading to cardiovascular complications. This syndrome, first reported around 55 years ago, is inherited in an autosomal recessive manner and affects both genders. ATS manifests primarily in childhood, with arterial abnormalities disrupting blood circulation, increasing shear stress, and causing complications, such as atherosclerosis and strokes. This article reviews the genetics, etiology, pathophysiology, clinical presentation, diagnosis, associated conditions, management, and challenges of ATS. The syndrome's genetic cause is linked to mutations in the SLC2A10 gene, affecting collagen and elastin synthesis. Arterial tortuosity, a complex phenomenon, arises from factors such as vessel elongation, anatomic fixation, and vessel diameter. ATS is one of many conditions associated with arterial tortuosity, including Marfan syndrome and Loeys-Dietz syndrome. Recent studies highlight arterial tortuosity's potential as a prognostic indicator for adverse cardiovascular events. Management requires a multidisciplinary approach, and surveillance and prevention play key roles. Despite challenges, advancements in understanding ATS offer hope for targeted therapies and improved patient care.
Research in Cardiovascular Medicine · 2020 · 3 citations · open access
Successful pulmonary artery balloon angioplasty in a rare case of arterial tortuosity syndrome
AbstractArterial tortuosity syndrome (ATS) is a very rare autosomal recessive disease which results from mutations of the SLC2A10 gene. In this article, we describe the results of vascular imaging of an adult patient with ATS who was presented with pulmonary hypertension and after a complete evaluation, he was a candidate for interventional balloon angioplasty. Our patient is one of the very limited numbers of list patients in the studies for whom percutaneous balloon angioplasty performed successfully.
Journal of Clinical Images and Medical Case Reports · 2023 · 1 citations · open access
Imaging in a rare case of neonatal arterial tortuosity syndrome
AbstractArterial Tortuosity Syndrome (ATS) is a very rare autosomal recessive disorder, that affects the connective tissue. The incidence of ATS is not well known and to date only 106 patients have been described in literature. ATS affects medium and large sizes arteries, leading to a widespread elongation and to an intensification of the average vessel tortuousness, responsible of several loops and kinks.
World Journal for Pediatric and Congenital Heart Surgery · 2025 · 0 citations · open access
Surgical Repair of the Aorta in a Neonate With Arterial Tortuosity Syndrome
AbstractArterial tortuosity syndrome (ATS) is an autosomal-recessive genetic connective tissue disorder that affects the aorta and medium-sized arterial vessels. 1 We report a case of successful surgical management of the descending aorta in a ten-day-old patient with ATS who presented with multiorganic failure. The aortic reconstruction with a pulmonary homograft patch was performed using full-flow body perfusion.
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.
