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Master Thesis

Impact clinique d’une dystrophine résiduelle en immunohistochimie chez des patients DMD mutés

Abstract : Western blot and immunohistochemistry are two routine clinical techniques to characterize the expression of dystrophin in patients with dystrophinopathy. Discrepancies may exist. Some patients may have weakly positive immunohistochemical staining, of non-reverting appearance (traces), contrasting with negative Western blot results. The clinical impact of this residual dystrophin is questionable. To better characterize and determine if this weak expression can mitigate disease severity, we focused on patients with null dystrophin on Western blot. Residual dystrophin expression on immunohistochemistry was correlated with age at loss of ambulation of patients included. Clinical data were obtained from medical care centres. Time-to-event analysis was performed for age of loss-of-ambulation. The patients included were from a previous study and none had dystrophin on Western blot (n=42). Patients with trace of dystrophin on immunohistochemistry, despite the absence of dystrophin on Western blots, ambulated longer than patients without dystrophin or with 40 isolated revertant fibers (HR 0.05; 95% CI 0.00-0.53; P=0.013). These results were obtained with antibodies specific to the terminal carboxy domain of dystrophin. These results were not confirmed for those targeting the central domain. In conclusion, any dystrophin in immunohistochemistry seems useful in reducing the severity of the phenotype. On the other hand, dystrophin expressed must include the functional sites necessary for its action. Our results must be interpreted in light of the limitations inherent in the methodology of our study.
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Master Thesis
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Submitted on : Tuesday, February 16, 2021 - 10:45:14 AM
Last modification on : Thursday, September 2, 2021 - 3:09:14 AM


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  • HAL Id : dumas-03142604, version 1


Yvan de Féraudy. Impact clinique d’une dystrophine résiduelle en immunohistochimie chez des patients DMD mutés. Médecine humaine et pathologie. 2019. ⟨dumas-03142604⟩



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