Urine levels of the polyglutamine ataxin-3 protein are elevated in patients with spinocerebellar ataxia type 3
| Autor: | Rina Hashimoto, Jay A. van Gerpen, Yari Carlomagno, Mark S. LeDoux, Ronald F. Pfeiffer, Joseph H. Friedman, Yuka Koike, Samuel S. Giles, Ashley B. Pena, Leonard Petrucelli, Karen Jansen-West, Jaimin S. Shah, Josephine F. Huang, Philip W. Tipton, Jacek Zaremba, Venka Veerappan, Zbigniew K. Wszolek, John D. Fryer, Ikuko Aiba, Klaas J. Wierenga, Judith A. Dunmore, Jan O. Aasly, Ryan J. Uitti, Yuping Song, Rana Hanna Al-Shaikh, Mercedes Prudencio |
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| Rok vydání: | 2021 |
| Předmět: |
Adult
Male congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Ataxia Urine Article Cerebrospinal fluid Internal medicine medicine Humans Ataxin-3 (ATXN3) Ataxin-3 medicine.diagnostic_test business.industry Spinocerebellar ataxia type 3 (SCA3)/machado-josephs disease (MJD) Machado-Joseph Disease Biomarker medicine.disease Urine levels Repressor Proteins Endocrinology Neurology Case-Control Studies Polyglutamine (PolyQ) Ataxin Immunoassay Spinocerebellar ataxia Biomarker (medicine) Female Neurology (clinical) Geriatrics and Gerontology medicine.symptom Peptides business |
| Zdroj: | Parkinsonism & related disorders |
| ISSN: | 1353-8020 |
| DOI: | 10.1016/j.parkreldis.2021.07.018 |
| Popis: | Introduction Accumulation of polyglutamine (polyQ) ataxin-3 (ATXN3) contributes to the pathobiology of spinocerebellar ataxia type 3 (SCA3). Recently, we showed that polyQ ATXN3 is elevated in the plasma and cerebrospinal fluid (CSF) of SCA3 patients, and has the potential to serve as a biological marker for this disease [1]. Based on these findings, we investigated whether polyQ ATXN3 can also be detected in urine samples from SCA3 patients. Methods We analyzed urine samples from 30 SCA3 subjects (including one pre-symptomatic subject), 35 subjects with other forms of ataxia, and 37 healthy controls. To quantify polyQ ATXN3 protein levels, we used our previously developed immunoassay. Results PolyQ ATXN3 can be detected in the urine of SCA3 patients, but not in urine samples from healthy controls or other forms of ataxia. There was a significant statistical association between polyQ ATXN3 levels in urine samples and those in plasma. Further, the levels of polyQ ATXN3 urine associated with an earlier age of SCA3 disease onset. Conclusion As clinical trials for SCA3 advance, urine polyQ ATXN3 protein has potential to be a useful, non-invasive and inexpensive biomarker for SCA3. |
| Databáze: | OpenAIRE |
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