ArticleProceedings of the National Academy of Sciences of the United States of America2013
Huntington disease skeletal muscle is hyperexcitable owing to chloride and potassium channel dysfunction.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers, 1 of them a synthesis that pooled it.
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Who cites it
46 citing papers in PubMed, 1 synthesis or guideline pooled it, 65 citations in OpenAlex.
- Systemic Symptoms in Huntington's Disease: A Comprehensive Review.Movement disorders clinical practice · 2024Pooled it
- Integrated effects of altered action potentials and calcium release on skeletal muscle force generation in transgenic Huntington's disease mice.Pflugers Archiv : European journal of physiology · 2026Article
- Advancements in Targeting Ion Channels for the Treatment of Neurodegenerative Diseases.Pharmaceuticals (Basel, Switzerland) · 2024Review
- Modifiable factors associated with Huntington's disease progression in presymptomatic participants.Annals of clinical and translational neurology · 2024Observational
- Next Generation Sequencing and Electromyography Reveal the Involvement of theCurrent issues in molecular biology · 2024Article
- Huntingtin regulates calcium fluxes in skeletal muscle.The Journal of general physiology · 2023Article
- Fragment-based virtual screening identifies a first-in-class preclinical drug candidate for Huntington's disease.Scientific reports · 2022Article
- Beta-Boswellic Acid Reverses 3-Nitropropionic Acid-Induced Molecular, Mitochondrial, and Histopathological Defects in Experimental Rat Model of Huntington's Disease.Biomedicines · 2022Article
- Modelling the Human Blood-Brain Barrier in Huntington Disease.International journal of molecular sciences · 2022Article
- Therapeutic Targets in Amyotrophic Lateral Sclerosis: Focus on Ion Channels and Skeletal Muscle.Cells · 2022Review
- Homeostatic Plasticity of the Mammalian Neuromuscular Junction.Advances in neurobiology · 2022Article
- Acetylcholine receptor subunit expression in Huntington's disease mouse muscle.Biochemistry and biophysics reports · 2021Article
- Clenbuterol-sensitive delayed outward potassium currents in a cell model of spinal and bulbar muscular atrophy.Pflugers Archiv : European journal of physiology · 2021Article
- Systemic manifestation and contribution of peripheral tissues to Huntington's disease pathogenesis.Ageing research reviews · 2021Review
- Mechanisms of exercise as a preventative measure to muscle wasting.American journal of physiology. Cell physiology · 2021Review
- Huntington's disease skeletal muscle has altered T-tubules.The Journal of general physiology · 2021Article
- Polyglutamine diseases: looking beyond the neurodegenerative universe.Neural regeneration research · 2021Article
- Article
- A mouse model of Huntington's disease shows altered ultrastructure of transverse tubules in skeletal muscle fibers.The Journal of general physiology · 2021Article
- Statin-Induced Myopathy: Translational Studies from Preclinical to Clinical Evidence.International journal of molecular sciences · 2021Review
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
Huntington disease is a progressive and fatal genetic disorder with debilitating motor and cognitive defects. Chorea, rigidity, dystonia, and muscle weakness are characteristic motor defects of the disease that are commonly attributed to central neurodegeneration. However, no previous study has examined the membrane properties that control contraction in Huntington disease muscle. We show primary defects in ex vivo adult skeletal muscle from the R6/2 transgenic mouse model of Huntington disease. Action potentials in diseased fibers are more easily triggered and prolonged than in fibers from WT littermates. Furthermore, some action potentials in the diseased fibers self-trigger. These defects occur because of decreases in the resting chloride and potassium conductances. Consistent with this, the expression of the muscle chloride channel, ClC-1, in Huntington disease muscle was compromised by improper splicing and a corresponding reduction in total Clcn1 (gene for ClC-1) mRNA. Additionally, the total Kcnj2 (gene for the Kir2.1 potassium channel) mRNA was reduced in disease muscle. The resulting muscle hyperexcitability causes involuntary and prolonged contractions that may contribute to the chorea, rigidity, and dystonia that characterize Huntington disease.
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