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An Antisense Oligonucletide based therapy for a rare disease: in vitro and in vivo studies
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Orientador(es)
Resumo(s)
Mucolipidosis type II (ML II) is a Lysosomal Storage Disorder caused by the deficiency of the enzyme
GlcNAc-1-phosphotransferase. This enzyme is responsible for the addition of the mannose-6-phosphate
marker to lysosomal enzymes allowing their targeting to lysosomes. From the several ML II mutations, the
deletion of two nucleotides from GNPTAB exon 19 (c.3503_3504del) is the most frequent, making it a good
target for a mutation specific therapy. In this study, we explored an innovative therapeutic strategy based on
the use of antisense oligonucleotides (ASOs) for ML II. In a previous study1 on fibroblasts from ML II
patients, ASOs were used to skip exon 19 of the GNPTAB pre-mRNA, successfully resulting in the
production of an in-frame mRNA.
Currently, our objective is to evaluate the therapeutic potential of this approach, both in vitro in
C57BL/6 fibroblasts and in vivo in C57BL/6 mice.
Descrição
Palavras-chave
Mucolipidosis Type II Lysosomal Storage Disorder Genética Humana Doenças Genéticas