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DIVERGENT P53‑DEPENDENT PATHOLOGY IN PROXIMAL AND DISTAL SPINAL MUSCULAR ATROPHY
Marie Luise Stephan
Carl-Ludwig-Institute for Physiology
FENS Forum 2026 (2026)
Barcelona, Spain
Board PS01-07AM-418
Presentation
Date TBA
Board: PS01-07AM-418
Event Information
Poster Board
PS01-07AM-418
Poster
View posterAbstract
Motor neuron degeneration is the defining hallmark of the infantile neurodegenerative disorders distal and proximal spinal muscular atrophy (SMA). However, the molecular pathways driving motor neuron loss remain incompletely understood. A deeper mechanistic insight is essential for the development of targeted therapeutic strategies. Programmed cell death mediated by the tumor suppressor p53 has been implicated in several neurodegenerative diseases, including Alzheimer’s disease, Amyotrophic lateral sclerosis, and Parkinson’s disease. This underscores the relevance of defining p53‑associated cell‑death mechanisms in subtypes of SMA. To investigate p53‑dependent mechanisms across proximal and distal SMA, we performed immunohistochemistry combined with confocal microscopy on spinal cord tissue from two mouse models as well as human patient samples. Morphological and biochemical analyses revealed that, although both diseases exhibit robust p53 upregulation and post‑translational modification, the molecular cascades operating upstream and downstream of this transcription factor differ markedly between the proximal and distal form. These findings demonstrate fundamentally distinct cell‑death programs underlying MN degeneration in the two disorders. By delineating disease‑specific p53‑associated pathways, this work provides a framework for refining mechanistic models of MN death and for guiding the development of tailored therapeutic approaches.
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