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Urine levels of the polyglutamine ataxin-3 protein are elevated in patients with spinocerebellar ataxia type 3
- Source :
- Parkinsonism & related disorders
- Publication Year :
- 2021
- Publisher :
- Elsevier BV, 2021.
-
Abstract
- 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.
- Subjects :
- 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
Subjects
Details
- ISSN :
- 13538020
- Volume :
- 89
- Database :
- OpenAIRE
- Journal :
- Parkinsonism & Related Disorders
- Accession number :
- edsair.doi.dedup.....88192c3ea99b98081cbe8315f2baa791