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Circulating biomarkers of kidney angiomyolipoma and cysts in tuberous sclerosis complex patients.
Rubtsova, Varvara I; Chun, Yujin; Kim, Joohwan; Ramirez, Cuauhtemoc B; Jung, Sunhee; Choi, Wonsuk; Kelly, Miranda E; Lopez, Miranda L; Cassidy, Elizabeth; Rushing, Gabrielle; Aguiar, Dean J; Lau, Wei Ling; Ahdoot, Rebecca S; Smith, Moyra; Edinger, Aimee L; Lee, Sang-Guk; Jang, Cholsoon; Lee, Gina.
Afiliação
  • Rubtsova VI; Department of Biological Chemistry, School of Medicine, University of California Irvine, Irvine, CA, USA.
  • Chun Y; Department of Microbiology and Molecular Genetics, School of Medicine, University of California Irvine, Irvine, CA, USA.
  • Kim J; Department of Microbiology and Molecular Genetics, School of Medicine, University of California Irvine, Irvine, CA, USA.
  • Ramirez CB; Department of Microbiology and Molecular Genetics, School of Medicine, University of California Irvine, Irvine, CA, USA.
  • Jung S; Department of Biological Chemistry, School of Medicine, University of California Irvine, Irvine, CA, USA.
  • Choi W; Department of Microbiology and Molecular Genetics, School of Medicine, University of California Irvine, Irvine, CA, USA.
  • Kelly ME; Department of Biological Chemistry, School of Medicine, University of California Irvine, Irvine, CA, USA.
  • Lopez ML; Department of Biological Chemistry, School of Medicine, University of California Irvine, Irvine, CA, USA.
  • Cassidy E; Department of Biological Chemistry, School of Medicine, University of California Irvine, Irvine, CA, USA.
  • Rushing G; Department of Biological Chemistry, School of Medicine, University of California Irvine, Irvine, CA, USA.
  • Aguiar DJ; TSC Alliance, Silver Spring, MD, USA.
  • Lau WL; TSC Alliance, Silver Spring, MD, USA.
  • Ahdoot RS; TSC Alliance, Silver Spring, MD, USA.
  • Smith M; Division of Nephrology, Department of Medicine, School of Medicine, University of California Irvine, Irvine, CA, USA.
  • Edinger AL; Division of Nephrology, Department of Medicine, School of Medicine, University of California Irvine, Irvine, CA, USA.
  • Lee SG; Division of Genetics and Metabolism, Department of Pediatrics, School of Medicine, University of California Irvine, Irvine, CA, USA.
  • Jang C; Department of Developmental and Cell Biology, School of Biological Sciences, University of California Irvine, Irvine, CA, USA.
  • Lee G; Department of Pharmaceutical Sciences, School of Pharmacy and Pharmaceutical Sciences, University of California Irvine, Irvine, CA, USA.
iScience ; 27(7): 110265, 2024 Jul 19.
Article em En | MEDLINE | ID: mdl-39027368
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.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: IScience Ano de publicação: 2024 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: IScience Ano de publicação: 2024 Tipo de documento: Article