Cited by 209Neurogenetic and Muscular Disorders ResearchAmyotrophic Lateral Sclerosis ResearchHereditary Neurological Disorders

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Spinal muscular atrophy: mechanisms and therapeutic strategies

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Lorson, C. L., Rindt, H., Shababi, M.·2010·Human Molecular Genetics

DOI 10.1093/hmg/ddq147PMC PMC2875050

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Abstract

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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Shi, Y. (2009) · Current Molecular Pharmacology · doi:10.2174/1874467210902010015 · Cited by 24
Unfolding the mystery of alternative splicing through a unique method of in vivo selection
Ravindra, N. S. (2007) · Frontiers in bioscience · doi:10.2741/2310 · Cited by 21
Intron 7 conserved sequence elements regulate the splicing of the SMN genes
Gladman, J. T., & Chandler, D. S. (2009) · Human Genetics · doi:10.1007/s00439-009-0733-7 · Cited by 17

Flagged first, then by citations

Research works printed but not linked: 1

Khoo, 2009, Current opinion in molecular therapeutics, 11, 108

Sorted by citations

Validating therapeutic targets through human genetics
Plenge, R. M., Scolnick, E. M., & Altshuler, D. (2013) · Nature Reviews Drug Discovery · doi:10.1038/nrd4051 · Cited by 712
Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model
Hua, Y., Sahashi, K., Rigo, F., Hung, G., Horev, G., Bennett, C. F., & Krainer, A. R. (2011) · Nature · doi:10.1038/nature10485 · Cited by 744
Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics
Finkel, R. S., Mercuri, E. M., Meyer, O. H., Simonds, A. K., Schroth, M. K., Graham, R. J., Kirschner, J., Iannaccone, S. T., Crawford, T. O., Woods, S., et al. (2017) · Neuromuscular Disorders · doi:10.1016/j.nmd.2017.11.004 · Cited by 733
“Recent reviews of the literature [50,51] identified a number of cases with congenital heart defects such as atrial or ventricular septal defects.”
Spinal Muscular Atrophy
Kolb, S. J., & Kissel, J. T. (2015) · Neurologic Clinics · doi:10.1016/j.ncl.2015.07.004 · Cited by 605
Spinal muscular atrophy
D’Amico, A., Mercuri, E. M., Tiziano, F. D., & Bertini, E. (2011) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-6-71 · Cited by 579
“In the last few years however many progresses in understanding the molecular basis of the disease has been made and different therapeutic approaches are developing [57].”
Background

See all 209

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
DOI: 10.1093/hmg/ddq147
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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Spinal muscular atrophy: mechanisms and therapeutic strategies

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