ArticleHuman molecular genetics2015
Low levels of Survival Motor Neuron protein are sufficient for normal muscle function in the SMNΔ7 mouse model of SMA.
Article in Human molecular genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 43 citations in OpenAlex.
- Survival Motor Neuron Protein Requirement-Supply Mismatch in Spinal Muscular Atrophy: A Conceptual Framework.Advances in therapy · 2026Review
- Efficacy and preliminary safety assessment of EXG001-307 AAV gene therapy for spinal muscular atrophy.Molecular therapy. Methods & clinical development · 2025Article
- Nusinersen Treatment for Spinal Muscular Atrophy: Retrospective Multicenter Study of Pediatric and Adult Patients in Kuwait.Neurology international · 2024Article
- Disruption of Neuromuscular Junction Following Spinal Cord Injury and Motor Neuron Diseases.International journal of molecular sciences · 2024Review
- Muscle: an independent contributor to the neuromuscular spinal muscular atrophy disease phenotype.JCI insight · 2023Review
- Therapy development for spinal muscular atrophy: perspectives for muscular dystrophies and neurodegenerative disorders.Neurological research and practice · 2022Review
- Motoneuron Diseases.Advances in neurobiology · 2022Article
- Improvement in Fine Manual Dexterity in Children with Spinal Muscular Atrophy Type 2 after Nusinersen Injection: A Case Series.Children (Basel, Switzerland) · 2021Article
- Emerging concepts underlying selective neuromuscular dysfunction in infantile-onset spinal muscular atrophy.Neural regeneration research · 2021Review
- In Search of a Cure: The Development of Therapeutics to Alter the Progression of Spinal Muscular Atrophy.Brain sciences · 2021Review
- Conditional deletion of SMN in cell culture identifies functional SMN alleles.Human molecular genetics · 2020Article
- Muscle-specific SMN reduction reveals motor neuron-independent disease in spinal muscular atrophy models.The Journal of clinical investigation · 2020Article
- Fetal Gene Therapy Using a Single Injection of Recombinant AAV9 Rescued SMA Phenotype in Mice.Molecular therapy : the journal of the American Society of Gene Therapy · 2019Article
- Functional characterization of SMN evolution in mouse models of SMA.Scientific reports · 2019Article
- Specific inhibition of myostatin activation is beneficial in mouse models of SMA therapy.Human molecular genetics · 2019Article
- Motor neuron biology and disease: A current perspective on infantile-onset spinal muscular atrophy.Future neurology · 2018Article
- Antisense Oligonucleotide-Based Therapy for Neuromuscular Disease.Molecules (Basel, Switzerland) · 2017Review
- Advances in modeling and treating spinal muscular atrophy.Current opinion in neurology · 2016Review
- A Stem Cell Model of the Motor Circuit Uncouples Motor Neuron Death from Hyperexcitability Induced by SMN Deficiency.Cell reports · 2016Article
- Cross-disease comparison of amyotrophic lateral sclerosis and spinal muscular atrophy reveals conservation of selective vulnerability but differential neuromuscular junction pathology.The Journal of comparative neurology · 2016Article
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Authors and funding
8 authors at 1 institution in 1 country.
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Abstract
Spinal Muscular Atrophy (SMA) is an autosomal recessive disorder characterized by loss of lower motor neurons. SMA is caused by deletion or mutation of the Survival Motor Neuron 1 (SMN1) gene and retention of the SMN2 gene. The loss of SMN1 results in reduced levels of the SMN protein. SMN levels appear to be particularly important in motor neurons; however SMN levels above that produced by two copies of SMN2 have been suggested to be important in muscle. Studying the spatial requirement of SMN is important in both understanding how SMN deficiency causes SMA and in the development of effective therapies. Using Myf5-Cre, a muscle-specific Cre driver, and the Cre-loxP recombination system, we deleted mouse Smn in the muscle of mice with SMN2 and SMNΔ7 transgenes in the background, thus providing low level of SMN in the muscle. As a reciprocal experiment, we restored normal levels of SMN in the muscle with low SMN levels in all other tissues. We observed that decreasing SMN in the muscle has no phenotypic effect. This was corroborated by muscle physiology studies with twitch force, tetanic and eccentric contraction all being normal. In addition, electrocardiogram and muscle fiber size distribution were also normal. Replacement of Smn in muscle did not rescue SMA mice. Thus the muscle does not appear to require high levels of SMN above what is produced by two copies of SMN2 (and SMNΔ7).
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