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Histopathology of the tongue in a mouse model of oculopharyngeal muscular dystrophy reveals progressive PABPN1 deposition associated with muscle wasting.

GSE263433 Mus musculus Expression profiling by high throughput sequencing 8 samples Submitted 2024/12/04 Platform GPL24247
Summary
The tongue facilitates vital activities such as swallowing. Swallowing difficulties (dysphagia) are common in the elderly and in many adult-onset neuromuscular diseases. In oculopharyngeal muscular dystrophy (OPMD), dysphagia is often the first symptom. OPMD is an autosomal dominant myopathy caused by a trinucleotide expansion mutation in the gene encoding PABPN1. The expanded PABPN1 forms insoluble nuclear aggregates that reduce the levels of the soluble form. Clinical tongue involvement in OPMD has been documented but is poorly understood. Tongue histopathology was investigated in OPMD mouse models using light and electron microscopy. Muscle histopathology was predominantly affected by age. PABPN1 nuclear aggregates were found at moderate levels, whereas deposition of insoluble PABPN1 in blood vessels was already prominent in 4-month-old mice. RNA signatures of the OPMD tongue were enriched for mitochondrial and cytoskeletal genes, suggesting an energy and contractile deficit.
Published in
Histopathologic Marks of Tongue in a Mouse Model of Oculopharyngeal Muscular Dystrophy Suggest Biomechanical Defects
Kordikowski Boix R, Bos E, Shademan M et al. · The American journal of pathology 2025 · PMID 39800052 · doi:10.1016/j.ajpath.2024.12.009
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Also filed as BioProject PRJNA1097542 and SRA study SRP500363. Searching any of these in the dataset finder brings you back here.

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