Next Article in Journal
Influence of NKG2D Genetic Variants on Response to Anti-TNF Agents in Patients with Rheumatoid Arthritis
Next Article in Special Issue
Impact, Characterization, and Rescue of Pre-mRNA Splicing Mutations in Lysosomal Storage Disorders
Previous Article in Journal
Fungal Screening on Olive Oil for Extracellular Triacylglycerol Lipases: Selection of a Trichoderma harzianum Strain and Genome Wide Search for the Genes
Previous Article in Special Issue
Muscle-Specific Mis-Splicing and Heart Disease Exemplified by RBM20
Article Menu
Issue 2 (February) cover image

Export Article

Open AccessReview
Genes 2018, 9(2), 63; https://doi.org/10.3390/genes9020063

Alternative Splicing of Alpha- and Beta-Synuclein Genes Plays Differential Roles in Synucleinopathies

Department of Pathology, Germans Trias i Pujol Research Institute, Badalona, 08916 Barcelona, Spain
*
Author to whom correspondence should be addressed.
Received: 3 November 2017 / Revised: 15 January 2018 / Accepted: 17 January 2018 / Published: 25 January 2018
(This article belongs to the Special Issue Aberrant Pre-mRNA Splicing in Disease)
Full-Text   |   PDF [1329 KB, uploaded 25 January 2018]   |  

Abstract

The synuclein family is composed of three members, two of which, α- and β-synuclein, play a major role in the development of synucleinopathies, including Parkinson’s disease (PD) as most important movement disorder, dementia with Lewy bodies (DLB) as the second most frequent cause of dementia after Alzheimer’s disease and multiple system atrophy. Whereas abnormal oligomerization and fibrillation of α-synuclein are now well recognized as initial steps in the development of synucleinopathies, β-synuclein is thought to be a natural α-synuclein anti-aggregant. α-synuclein is encoded by the SNCA gene, and β-synuclein by SNCB. Both genes are homologous and undergo complex splicing events. On one hand, in-frame splicing of coding exons gives rise to at least three shorter transcripts, and the functional properties of the corresponding protein isoforms are different. Another type of alternative splicing is the alternative inclusion of at least four initial exons in the case of SNCA, and two in the case of SNCB. Finally, different lengths of 3’ untranslated regions have been also reported for both genes. SNCB only expresses in the brain, but some of the numerous SNCA transcripts are also brain-specific. With the present article, we aim to provide a systematic review of disease related changes in the differential expression of the various SNCA and SNCB transcript variants in brain, blood, and non-neuronal tissue of synucleinopathies, but especially PD and DLB as major neurodegenerative disorders. View Full-Text
Keywords: α-synuclein; SNCA; β-synuclein; SNCB; alternative splicing; functional splice variants; differential expression α-synuclein; SNCA; β-synuclein; SNCB; alternative splicing; functional splice variants; differential expression
Figures

Figure 1

This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).
SciFeed

Share & Cite This Article

MDPI and ACS Style

Gámez-Valero, A.; Beyer, K. Alternative Splicing of Alpha- and Beta-Synuclein Genes Plays Differential Roles in Synucleinopathies. Genes 2018, 9, 63.

Show more citation formats Show less citations formats

Note that from the first issue of 2016, MDPI journals use article numbers instead of page numbers. See further details here.

Related Articles

Article Metrics

Article Access Statistics

1

Comments

[Return to top]
Genes EISSN 2073-4425 Published by MDPI AG, Basel, Switzerland RSS E-Mail Table of Contents Alert
Back to Top