Identification of a potential exosomal biomarker in spinocerebellar ataxia Type 3/Machado

Identification of a potential exosomal biomarker in spinocerebellar ataxia Type 3/Machado–Joseph disease

Published:2019-07 Issue:9 Volume:11 Page:1037-1056
ISSN:1750-1911
Container-title:Epigenomics
language:en
Short-container-title:Epigenomics

Author:

Hou Xiaocan¹,Gong Xuan²,Zhang Longbo²,Li Tianjiao¹,Yuan Hongyu¹,Xie Yue¹,Peng Yun¹,Qiu Rong³,Xia Kun⁴,Tang Beisha¹⁴⁵⁶,Jiang Hong¹⁴⁵⁶

Affiliation:

1. Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, PR China

2. Department of Neurosurgery, Xiangya Hospital, Central South University, Changsha, Hunan 410008, PR China

3. School of Information Science & Engineering, Central South University, Changsha, Hunan 410008, PR China

4. Laboratory of Medical Genetics, Central South University, Changsha, Hunan 410008, PR China

5. Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, Hunan 410008, PR China

6. National Clinical Research Center for Geriatrics Disorders, Xiangya Hospital, Central South University, Changsha, Hunan 410008, PR China

Abstract

Aim: To identify spinocerebellar ataxia Type 3 (SCA3)-related exosomal biomarkers and the underlying mechanisms. Materials & methods: Exosomal RNAs from plasma and cerebrospinal fluid (CSF) were extracted from 24 SCA3 patients and 22 controls, respectively. Small RNA sequencing and quantitative PCR verification were performed. Gene ontology annotation and Kyoto Encyclopedia of Genes and Genomes pathway analyses of the results were carried out. Results: One novel miRNA is notably downregulated in plasma-derived exosomes, while upregulated in CSF-derived exosomes of SCA3 patients. Besides, it is successively upregulated in CSF-derived exosomes from Type 1, Type 2 and Type 3 groups. The downstream target genes were enriched in protein processing in endoplasmic reticulum and axon guidance. Conclusion: One exosomal biomarker was identified in SCA3, and this is the first time to report an exosomal miRNA as a biomarker in SCA3 internationally.

Publisher

Future Medicine Ltd

Subject

Cancer Research,Genetics

Link

https://www.futuremedicine.com/doi/pdf/10.2217/epi-2019-0081

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