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ε-Sarcoglycan: Unraveling the Myoclonus-Dystonia Gene
- Source :
- Molecular neurobiology. 58(8)
- Publication Year :
- 2021
-
Abstract
- Myoclonus-dystonia (MD) is a rare childhood-onset movement disorder, with an estimated prevalence of about 2 per 1,000,.000 in Europe, characterized by myoclonic jerks in combination with focal or segmental dystonia. Pathogenic variants in the gene encoding ε-sarcoglycan (SGCE), a maternally imprinted gene, are the most frequent genetic cause of MD. To date, the exact role of ε-sarcoglycan and the pathogenic mechanisms that lead to MD are still unknown. However, there are more than 40 reported isoforms of human ε-sarcoglycan, pointing to a complex biology of this protein. Additionally, some of these are brain-specific isoforms, which may suggest an important role within the central nervous system. In the present review, we aim to provide an overview of the current state of knowledge of ε-sarcoglycan. We will focus on the genetic landscape of SGCE and the presence and plausible role of ε-sarcoglycan in the brain. Finally, we discuss the importance of the brain-specific isoforms and hypothesize that SGCE may play essential roles in normal synaptic functioning and their alteration will be strongly related to MD.
Details
- ISSN :
- 15591182
- Volume :
- 58
- Issue :
- 8
- Database :
- OpenAIRE
- Journal :
- Molecular neurobiology
- Accession number :
- edsair.pmid..........9dcfde62b7da1a167bbe5f8a3722ba93