Genetics of Spinal Muscular Atrophy 2.0
A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Genetics and Genomics".
Deadline for manuscript submissions: closed (30 December 2023) | Viewed by 4560
Special Issue Editor
Interests: SMA Therapy
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
Spinal muscular atrophy (SMA) represents a remarkable case illustrating the power of modern genetics in solving complex biological and medical questions. In the 25 years since the discovery of the genetic basis of SMA, great progress has been achieved in our understanding of the molecular etiology of the disease. It has been clearly established that SMA is caused by the deletion or mutation of the SMN1 gene and the reduced expression of the SMN protein from the paralogous SMN2 gene due to alternative splicing. This understanding has provided the foundation for an extraordinary success story in modern drug development, resulting in three approved disease-modifying therapies for the treatment of SMA. However, gaps and key questions remain open and need solutions. For instance, we are still trying to understand why motor neurons are particularly sensitive to reduced SMN levels, how the same number of SMN2 copies results in different degrees of SMA severity, the role of epigenetic regulation in SMN expression, and how therapeutics interplay with SMA genetics.
With such open questions in mind, the goal of this Special Issue is to collect submissions, both literature reviews and original research articles, that will present the current conceptual framework to understand SMA and help advance the field to the next level.
The topics we would like to cover include but are not limited to:
- Genetics of SMA
- The nature of SMN2, unique to humans. Insight into molecular evolution
- The functional linkage of SMN2 gene dosage to SMA phenotypic spectrum and features
- Modifier genes and their functional relationship to SMN and SMA
- Epigenetic regulation and control of SMN expression
- SMN expression and function
- Why motor neurons are the most affected cells in SMA
- The role of SMN protein in extraneuronal tissues and organs
- Tissue-specific differences in SMN2 pre-mRNA splicing and SMN protein levels
- The temporal dynamics of SMN expression pre- and postnatally.
- The utility and challenges of using animal models to understand the genetics of SMA
- Insights from SMA genetics as guiding principles for the discovery of drugs against SMA
- The lessons from SMA therapeutic development for the discovery of drugs against genetic disorders
- The development and evolution of newborn screening and molecular diagnosis of SMA using classical and next-generation sequencing approaches
Dr. Nikolai Naryshkin
Guest Editor
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