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Master Thesis

Optimisation du transfert de gène dans les gamma-sarcoglycanopathies

Abstract : Gamma-Sarcoglycanopathy (or Limb Girdle Muscular Dystrophy type 2C) is a rare genetic disorder caused by mutations in the gamma-sarcoglycan gene. These mutations cause the lack of expression of gamma-sarcoglycan, a protein that plays a fundamental role in maintaining the integrity of muscle cells during contraction. In these patients, degeneration of muscle cells leads to progressive weakness of pelvis and shoulder muscles. Heart and respiratory failure can also occur and lead to premature death. Currently, there is no treatment available for this disease. In this study, we explored a gene therapy approach, consisting of reintroducing the gamma- sarcoglycan gene into the body using an AAV8 vector. In order to make the expression of the protein most similar to the one expressed by unmutated gene, two approaches for optimizing the expression cassette of the vector were studied. The first approach consists in the introduction of a regulatory element (miR-208T), and the second in the comparison of different promoters. The results showed that the best promoter for this vector is the 3rd promoter.
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Master Thesis
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https://dumas.ccsd.cnrs.fr/dumas-03435100
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Submitted on : Thursday, November 18, 2021 - 3:30:06 PM
Last modification on : Friday, December 3, 2021 - 3:39:37 AM
Long-term archiving on: : Saturday, February 19, 2022 - 7:27:58 PM

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  • HAL Id : dumas-03435100, version 1

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Fanny Lenglart. Optimisation du transfert de gène dans les gamma-sarcoglycanopathies. Sciences pharmaceutiques. 2020. ⟨dumas-03435100⟩

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