| Autor: |
Varvara I. Rubtsova, Yujin Chun, Joohwan Kim, Cuauhtemoc B. Ramirez, Sunhee Jung, Wonsuk Choi, Miranda E. Kelly, Miranda L. Lopez, Elizabeth Cassidy, Gabrielle Rushing, Dean J. Aguiar, Wei Ling Lau, Rebecca S. Ahdoot, Moyra Smith, Aimee L. Edinger, Sang-Guk Lee, Cholsoon Jang, Gina Lee |
| Jazyk: |
angličtina |
| Rok vydání: |
2024 |
| Předmět: |
|
| Zdroj: |
iScience, Vol 27, Iss 7, Pp 110265- (2024) |
| Druh dokumentu: |
article |
| ISSN: |
2589-0042 |
| DOI: |
10.1016/j.isci.2024.110265 |
| Popis: |
Summary: 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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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