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Spinal muscular atrophy: mechanisms and therapeutic strategies
Open accessAbstract
Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disorder and a leading genetic cause of infantile mortality. SMA is caused by mutation or deletion of Survival Motor Neuron-1 (SMN1). The clinical features of the disease are caused by specific degeneration of alpha-motor neurons in the spinal cord, leading to muscle weakness, atrophy and, in the majority of cases, premature death. A highly homologous copy gene (SMN2) is retained in almost all SMA patients but fails to generate adequate levels of SMN protein due to its defective splicing pattern. The severity of the SMA phenotype is inversely correlated with SMN2 copy number and the level of full-length SMN protein produced by SMN2 ( approximately 10-15% compared with SMN1). The natural history of SMA has been altered over the past several decades, primarily through supportive care measures, but an effective treatment does not presently exist. However, the common genetic etiology and recent progress in pre-clinical models suggest that SMA is well-suited for the development of therapeutic regimens. We summarize recent advances in translational research that hold promise for the progression towards clinical trials.
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“Excessive HDAC2 activity is linked to reduced BDNF/c-fos expression and impaired learning and memory (Sun et al., 2019; Lorson et al., 2010)”
From Histone modifications and depression: epigenetic mechanisms, therapeutic targets, and translational outlook (2026) · cites this paper as Lorson et al., 2010
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Yuzawa, T., Matsuoka, M., Sumitani, M., Aoki, F., Sezutsu, H., & Suzuki, M. G. (2020) · Figshare · doi:10.6084/m9.figshare.12986467
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Muscle and Motor System Disability
Malviya, R., & Rajput, S. (2026) · SpringerBriefs in modern perspectives on disability research. · doi:10.1007/978-981-95-9223-4_4
Metadata
- Authors
- Lorson, C. L., Rindt, H., & Shababi, M.
- Affiliations
- University of Missouri (US)
- Corresponding author
- Lorson, C. L.
- ORCID
- Lorson, C. L.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2010-04-13
- Volume
- 19
- Issue
- R1
- Pages
- R111-R118
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- PMC
- PMC2875050
- OpenAlex
- W2105989886
- Cited by
- 209
- References
- 86
- Citations by year
- 2026: 5 · 2025: 7 · 2024: 7 · 2023: 6 · 2022: 12 · 2021: 8 · 2020: 16 · 2019: 5 · 2018: 8 · 2017: 11 · 2016: 4 · 2015: 14 · 2014: 18 · 2013: 21 · 2012: 29
- FWCI
- 3.31
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Human Molecular Genetics (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institutes of Health
- National Institute of Neurological Disorders and Stroke (R01 NS41584, R01NS041584)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01HD054413)
- Topics
- Health Sciences › Medicine › Genetics (clinical) › Neurogenetic and Muscular Disorders Research
- Health Sciences › Medicine › Clinical Neurology › Amyotrophic Lateral Sclerosis Research
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Keywords
- spinal muscular atrophy, SMN1, SMN2, survival motor neuron protein, SMN2 splicing, SMN2 copy number, disease severity, treatment options, preclinical models, neurodegeneration
- MeSH terms
- Gene Expression Regulation, Humans, Muscular Atrophy, Spinal, Phenotype, RNA Splicing, Drug Design, Stem Cell Transplantation, Survival of Motor Neuron 1 Protein, Survival of Motor Neuron 2 Protein
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