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Cited by 14Amyotrophic Lateral Sclerosis ResearchNeurogenetic and Muscular Disorders ResearchMuscle Physiology and Disorders

AAV-NRIP gene therapy ameliorates motor neuron degeneration and muscle atrophy in ALS model mice

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Chen, Hsin-Hsiung, Yeo, Hsin-Tung, Huang, Yun-Hsin, Tsai, Li-Kai, Lai, Hsing-Jung, Tsao, Yeou-Ping, Chen, Show-Li·2024·Skeletal Muscle
DOI 10.1186/s13395-024-00349-zPMC PMC11267858
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Abstract

Background: Amyotrophic lateral sclerosis (ALS) is characterized by progressive motor neuron (MN) degeneration, leading to neuromuscular junction (NMJ) dismantling and severe muscle atrophy. The nuclear receptor interaction protein (NRIP) functions as a multifunctional protein. It directly interacts with calmodulin or α-actinin 2, serving as a calcium sensor for muscle contraction and maintaining sarcomere integrity. Additionally, NRIP binds with the acetylcholine receptor (AChR) for NMJ stabilization. Loss of NRIP in muscles results in progressive motor neuron degeneration with abnormal NMJ architecture, resembling ALS phenotypes. Therefore, we hypothesize that NRIP could be a therapeutic factor for ALS. Methods: We used SOD1 G93A mice, expressing human SOD1 with the ALS-linked G93A mutation, as an ALS model. An adeno-associated virus vector encoding the human NRIP gene (AAV-NRIP) was generated and injected into the muscles of SOD1 G93A mice at 60 days of age, before disease onset. Pathological and behavioral changes were measured to evaluate the therapeutic effects of AAV-NRIP on the disease progression of SOD1 G93A mice. Results: SOD1 G93A mice exhibited lower NRIP expression than wild-type mice in both the spinal cord and skeletal muscle tissues. Forced NRIP expression through AAV-NRIP intramuscular injection was observed in skeletal muscles and retrogradely transduced into the spinal cord. AAV-NRIP gene therapy enhanced movement distance and rearing frequencies in SOD1 G93A mice. Moreover, AAV-NRIP increased myofiber size and slow myosin expression, ameliorated NMJ degeneration and axon terminal denervation at NMJ, and increased the number of α-motor neurons (α-MNs) and compound muscle action potential (CMAP) in SOD1 G93A mice. Conclusions: AAV-NRIP gene therapy ameliorates muscle atrophy, motor neuron degeneration, and axon terminal denervation at NMJ, leading to increased NMJ transmission and improved motor functions in SOD1 G93A mice. Collectively, AAV-NRIP could be a potential therapeutic drug for ALS.

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Authors
Chen, H.-H., Yeo, H.-T., Huang, Y.-H., Tsai, L.-K., Lai, H.-J., Tsao, Y.-P., & Chen, S.-L.
Affiliations
  • National Taiwan University (TW)
  • National Taiwan University Hospital (TW)
  • Mackay Memorial Hospital (TW)
Corresponding author
Chen, Show-Li
ORCID
Venue
Skeletal Muscle
Publisher
Springer Science and Business Media LLC
Published
2024-07-24
Volume
14
Issue
1
Pages
17-17
ISSN
2044-5040 (ISSN-L)
DOI
10.1186/s13395-024-00349-z
PMC
PMC11267858
OpenAlex
W4400964666
Cited by
14
References
77
Citations by year
2026: 6 · 2025: 4 · 2024: 4
FWCI
3.73
Type
journal article
Language
en
Open access
Licence
Locations
  • Skeletal Muscle (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion)
Funders
  • National Science and Technology Council (NSTC 112-2320-B-002-004)
  • National Taiwan University (10R891903)
Topics
  • Health Sciences › Medicine › Neurology › Amyotrophic Lateral Sclerosis Research
  • Health Sciences › Medicine › Genetics › Neurogenetic and Muscular Disorders Research
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Muscle Physiology and Disorders
Keywords
amyotrophic lateral sclerosis, adeno-associated virus gene therapy, motor neuron degeneration, muscle atrophy, neuromuscular junction, SOD1 G93A mice, intramuscular injection, compound muscle action potential, slow myosin, alpha motoneurons, acetylcholine receptor, calcium sensor
MeSH terms
Superoxide Dismutase-1, Dependovirus, Amyotrophic Lateral Sclerosis, Animals, Disease Models, Animal, Genetic Vectors, Humans, Male, Mice, Transgenic, Motor Neurons, Muscular Atrophy, Nerve Degeneration, Neuromuscular Junction, Genetic Therapy, Muscle, Skeletal, Mice

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