ArticleAnnals of clinical and translational neurology2016
Impaired muscle uptake of creatine in spinal and bulbar muscular atrophy.
Article in Annals of clinical and translational neurology, 2016. 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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The trial behind it
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Who cites it
24 citing papers in PubMed, 44 citations in OpenAlex.
- Mexiletine in spinal and bulbar muscular atrophy: a randomized controlled trial.Annals of clinical and translational neurology · 2022Trial
- Trial
- Label-free morphology-based phenotypic analysis of spinal and bulbar muscular atrophy muscle cell models.Disease models & mechanisms · 2025Article
- The Relevance of Spinal Muscular Atrophy Biomarkers in the Treatment Era.Biomedicines · 2024Review
- Respiratory Trajectories and Correlation with Serum Biochemical Indices in Spinal and Bulbar Muscular Atrophy.Brain sciences · 2024Article
- The value of serum creatinine as biomarker of disease progression in spinal and bulbar muscular atrophy (SBMA).Scientific reports · 2023Article
- Metabolome and transcriptome analysis on muscle of sporadic inclusion body myositis.Annals of clinical and translational neurology · 2022Observational
- Serum Creatine, Not Neurofilament Light, Is Elevated in CHCHD10-Linked Spinal Muscular Atrophy.Frontiers in neurology · 2022Article
- Could outcomes of intracranial aneurysms be better predict using serum creatinine and glomerular filtration rate?Acta cirurgica brasileira · 2022Article
- Serum creatine kinase and creatinine in adult spinal muscular atrophy under nusinersen treatment.Annals of clinical and translational neurology · 2021Observational
- Serum creatinine is a biomarker of progressive denervation in spinal muscular atrophy.Neurology · 2020Article
- Elevated serum creatine kinase in the early stage of sporadic amyotrophic lateral sclerosis.Journal of neurology · 2019Article
- Molecular Mechanisms and Therapeutics for SBMA/Kennedy's Disease.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2019Review
- Src inhibition attenuates polyglutamine-mediated neuromuscular degeneration in spinal and bulbar muscular atrophy.Nature communications · 2019Article
- TDP-43 regulates early-phase insulin secretion via CaV1.2-mediated exocytosis in islets.The Journal of clinical investigation · 2019Article
- Monitoring Kidney Dysfunction in Kugelberg-Welander Syndrome.The American journal of case reports · 2019Article
- Muscle and not neuronal biomarkers correlate with severity in spinal and bulbar muscular atrophy.Neurology · 2019Article
- Autophagic and Proteasomal Mediated Removal of Mutant Androgen Receptor in Muscle Models of Spinal and Bulbar Muscular Atrophy.Frontiers in endocrinology · 2019Article
- Article
- Beyond motor neurons: expanding the clinical spectrum in Kennedy's disease.Journal of neurology, neurosurgery, and psychiatry · 2018Review
Corrections and comments
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Authors and funding
17 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveThe aim of this study was to explore the pathomechanism underlying the reduction of serum creatinine (Cr) concentrations in spinal and bulbar muscular atrophy (SBMA).
methodsWe evaluated blood chemistries, motor function, and muscle mass measured by dual-energy X-ray absorptiometry in male subjects with SBMA (n = 65), amyotrophic lateral sclerosis (ALS; n = 27), and healthy controls (n = 25). We also examined the intramuscular concentrations of creatine, a precursor of Cr, as well as the protein and mRNA expression levels of the creatine transporter (SLC6A8) in autopsy specimens derived from subjects who had SBMA and ALS and disease controls. Furthermore, we measured the mRNA expression levels of SLC6A8 in cultured muscle cells (C2C12) transfected with the polyglutamine-expanded androgen receptor (AR-97Q).
resultsSerum Cr concentrations were significantly lower in subjects with SBMA than in those with ALS (P < 0.001), despite similar muscle mass values. Intramuscular creatine concentrations were also lower in with the autopsied specimen of SBMA subjects than in those with ALS subjects (P = 0.018). Moreover, the protein and mRNA expression levels of muscle SLC6A8 were suppressed in subjects with SBMA. The mRNA levels of SLC6A8 were also suppressed in C2C12 cells bearing AR-97Q.
interpretationThese results suggest that low serum Cr concentration in subjects with SBMA is caused by impaired muscle uptake of creatine in addition to being caused by neurogenic atrophy. Given that creatine serves as an energy source in skeletal muscle, increasing muscle creatine uptake is a possible therapeutic approach for treating SBMA.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.