Evidence map›Paper›PMID 39027368›Full record

ArticleiScience2024

Circulating biomarkers of kidney angiomyolipoma and cysts in tuberous sclerosis complex patients.

Varvara I Rubtsova, Yujin Chun, Joohwan Kim, Cuauhtemoc B Ramirez, Sunhee Jung, Wonsuk Choi, Miranda E Kelly, Miranda L Lopez, Elizabeth Cassidy, Gabrielle Rushing and 8 more

Registry-linked trialAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in iScience, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT05676099 (TSC Alliance Tuberous Sclerosis Complex), which is not on this map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

NCT05676099 recruitingnot on this map

TSC Alliance Tuberous Sclerosis Complex (TSC) Biosample Repository and Natural History Database

Typeobservational_patient_registrySponsorNational Tuberous Sclerosis AssociationRan2016 to 2050Enrolled5,000ConditionsTuberous Sclerosis, LymphangioleiomyomatosisArmsPhlebotomy, Buccal (cheek) swab, Genetic Testing, Tissue donation after routine clinical procedure
3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

18 authors.

Varvara I RubtsovaDepartment of Biological Chemistry, School of Medicine, University of California Irvine, Irvine, CA, USA.
Yujin ChunDepartment of Microbiology and Molecular Genetics, School of Medicine, University of California Irvine, Irvine, CA, USA.
Joohwan KimDepartment of Microbiology and Molecular Genetics, School of Medicine, University of California Irvine, Irvine, CA, USA.
Cuauhtemoc B RamirezDepartment of Biological Chemistry, School of Medicine, University of California Irvine, Irvine, CA, USA.
Sunhee JungDepartment of Biological Chemistry, School of Medicine, University of California Irvine, Irvine, CA, USA.
Wonsuk ChoiDepartment of Biological Chemistry, School of Medicine, University of California Irvine, Irvine, CA, USA.
Miranda E KellyDepartment of Biological Chemistry, School of Medicine, University of California Irvine, Irvine, CA, USA.
Miranda L LopezDepartment of Biological Chemistry, School of Medicine, University of California Irvine, Irvine, CA, USA.
Elizabeth CassidyTSC Alliance, Silver Spring, MD, USA.
Gabrielle RushingTSC Alliance, Silver Spring, MD, USA.
Dean J AguiarTSC Alliance, Silver Spring, MD, USA.
Wei Ling LauDivision of Nephrology, Department of Medicine, School of Medicine, University of California Irvine, Irvine, CA, USA.
Rebecca S AhdootDivision of Nephrology, Department of Medicine, School of Medicine, University of California Irvine, Irvine, CA, USA.
Moyra SmithDivision of Genetics and Metabolism, Department of Pediatrics, School of Medicine, University of California Irvine, Irvine, CA, USA.
Aimee L EdingerDepartment of Developmental and Cell Biology, School of Biological Sciences, University of California Irvine, Irvine, CA, USA.
Sang-Guk LeeDepartment of Biological Chemistry, School of Medicine, University of California Irvine, Irvine, CA, USA.
Cholsoon JangDepartment of Biological Chemistry, School of Medicine, University of California Irvine, Irvine, CA, USA.
Gina LeeDepartment of Microbiology and Molecular Genetics, School of Medicine, University of California Irvine, Irvine, CA, USA.

Funding

Univ.of Calif., Irvine Cancer Center Support GrantP30CA062203 · NCI · UNIVERSITY OF CALIFORNIA-IRVINE · PI Melanie Funes · 1994 to 2026
$57.9M
CARCINOGENESIST32CA009054 · NCI · UNIVERSITY OF CALIFORNIA-IRVINE · PI EDINGER, AIMEE L, FRUMAN, DAVID ALEXANDER · 1985 to 2025
$8.6M
NCI NIH HHS P30 CA062203NCI NIH HHS T32 CA009054
6 · The paper itself

Abstract

Patients with tuberous sclerosis complex (TSC) develop multi-organ disease manifestations, with kidney angiomyolipomas (AML) and cysts being one of the most common and deadly. Early and regular AML/cyst detection and monitoring are vital to lower TSC patient morbidity and mortality. However, the current standard of care involves imaging-based methods that are not designed for rapid screening, posing challenges for early detection. To identify potential diagnostic screening biomarkers of AML/cysts, we performed global untargeted metabolomics in blood samples from 283 kidney AML/cyst-positive or -negative TSC patients using mass spectrometry. We identified 7 highly sensitive chemical features, including octanoic acid, that predict kidney AML/cysts in TSC patients. Patients with elevated octanoic acid have lower levels of very long-chain fatty acids (VLCFAs), suggesting that dysregulated peroxisome activity leads to overproduction of octanoic acid via VLCFA oxidation. These data highlight AML/cysts blood biomarkers for TSC patients and offers valuable metabolic insights into the disease.

Indexed as

Clinical geneticsEndocrinologyPathophysiology

Identifiers

PMID39027368
PMCPMC11255849

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Registered trials

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.