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Muscle wasting and weakness are critical clinical problems that limit mobility and independence, reduce health span, and increase the risk of physical disability. The molecular basis for this has not been fully determined. Klotho expression is downregulated in conditions associated with muscle wasting, including aging, chronic kidney disease, and myopathy. The objective of this study was to investigate a mechanistic role for Klotho in regulating muscle wasting and weakness. Body weight, lean mass, muscle mass, and myofiber caliber were reduced in Klotho-deficient mice. In the tibialis anterior muscle of Klotho-null mice, type IIa myofibers were resistant to changes in size, and muscle composition differed with a higher concentration of type IIb fibers to the detriment of type IIx fibers. Glycolytic GPDH enzymatic activity also increased. Klotho-deficient mice showed impaired muscle contractility, with reduced twitch force, torque, and contraction-relaxation rates. RNA sequencing revealed upregulation of synaptic and fetal sarcomeric genes, prompting us to examine muscle innervation. Klotho deficiency led to neuromuscular junction remodeling, myofiber denervation, and functional motor unit loss. Loss of motor units correlated with absolute torque. Collectively, these findings reveal a novel mechanism through which systemic Klotho deficiency disrupts muscle synapses and motor unit connectivity, potentially contributing to muscle wasting and weakness.
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http://dx.doi.org/10.3390/ijms26167986 | DOI Listing |
JCI Insight
September 2025
Edinburgh Medical School: Biomedical Sciences & Euan MacDonald Centre for M, University of Edinburgh, Edinburgh, United Kingdom.
Spinal muscular atrophy (SMA) is a neuromuscular disease caused by low levels of SMN protein. Several therapeutic approaches boosting SMN are approved for human patients, delivering remarkable improvements in lifespan and symptoms. However, emerging phenotypes, including neurodevelopmental comorbidities, are being reported in some treated SMA patients, indicative of alterations in brain development.
View Article and Find Full Text PDFMol Genet Genomic Med
September 2025
Department of Maternal-Fetal Medicine, Augusta University, Augusta, Georgia, USA.
Introduction: Spinal muscular atrophy (SMA), caused by pathogenic variants in the survival motor neuron (SMN) gene, is the most common genetic cause of mortality in children under the age of two. Prior reports of obstetric sonograms performed in pregnancies with severe forms of fetal SMA have discrepant findings that may stem from a failure to account for the SMN2 copy number.
Methods: We present a neonate diagnosed with SMA type 0 postnatally (0SMN1/1SMN2 genotype).
Surg Case Rep
September 2025
Department of Surgery, Kyushu University Beppu Hospital, Beppu, Oita, Japan.
Introduction: Glycogen storage disease type IX (GSD type IX) is caused by a deficiency in phosphorylase b kinase (PHK) and is classified into hepatic (IXa-c) and muscular (IXd) subtypes. GSD type IXd leads to exercise intolerance, rhabdomyolysis, and myoglobinuria owing to impaired glycogen breakdown. It is a rare and mild metabolic disorder, with only 19 reported cases of mutations.
View Article and Find Full Text PDFLiver Int
October 2025
Hannover Medical School, Department of Diagnostic and Interventional Radiology, Hannover, Germany.
Background And Aims: We aimed to ascertain the prevalence of sarcopenia in patients with primary sclerosing cholangitis (PSC) and to assess the prognostic value as a biomarker for disease outcome.
Methods: We collected data from 224 patients (148 male, 76 female; mean age 41 years) from January 2002 to December 2021, with a confirmed diagnosis of PSC who underwent magnetic resonance imaging (MRI). Muscle mass was quantified at the level of the third lumbar vertebra by measurement of psoas muscle thickness (PMT) and total psoas muscle area (PMA).
Medicine (Baltimore)
September 2025
Department of Epidemiology and Biostatistics, School of Public Health, Tianjin Medical University, Tianjin, China.
Sarcopenia, a growing public health concern lacking targeted therapies, highlights the need to investigate modifiable factors like physical activity (PA) and sedentary behavior, which influence muscle health. However, most research focuses on older adults, with limited data on young and middle-aged populations. This study leverages the National Health and Nutrition Examination Survey (NHANES) data to investigate this topic in the US population aged 18 to 59 to address this critical gap.
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