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New Zebrafish Models for Mitochondrial Diseases
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Resumo(s)
Introduction: Mitochondrial diseases (MD) are rare disorders with clinical and genetic heterogeneity and no effective therapies. Next Generation Sequencing has advanced MD diagnosis, although the interpretation of variants of unknown significance (VUS) remains a challenge (1). Functional validation is crucial for determining VUS pathogenicity, and zebrafish has emerged as a valuable organism to model MD, due to its conserved physiology and genetic similarity to humans. This project aims to functionally characterize four previously identified VUS in ACAD9 and TSFM using zebrafish as an in vivo model.
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Palavras-chave
Mitochondrial Diseases Doenças Genéticas Rare Disorders Next Generation Sequencing MD Diagnosis