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Exploring an antisense oligonucleotide exon-skipping therapeutic strategy for Mucolipidosis II
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Resumo(s)
Introduction: Mucolipidosis II (ML II) is a Lysosomal Storage Disorder caused by the
deficiency of the enzyme GlcNAc-1-phosphotransferase, which is responsible for the
Mannose-6-Phosphate marker addition to lysosomal enzymes. Of all ML II mutations,
the c.3503_3504delTC in GNPTAB exon 19 is the most frequent, making it a good
target for a personalized therapy. Here, we explored an innovative therapeutic
strategy based on the use of antisense oligonucleotides (ASOs) for ML II. Previously, on
ML II patients’ fibroblasts, ASOs were used to skip exon 19 of the GNPTAB pre-mRNA,
successfully resulting in the production of an in-frame mRNA. Now, our aim is to
analyze if these results are translated to the enzymatic and cellular phenotype level.
Descrição
Palavras-chave
Mucolipidosis II Lysosomal Storage Disorder Genética Humana Doenças Genéticas