Allele-specific silencing therapy for dynamin 2-related diseases
AssigneesAssoication Institut De Myologie, Inserm (Institut National De La Sante Et De La Recherche Medicale), Sorbonne Universite, Centre National De La Recherche Scientifique
InventorsMarc Bitoun, Delphine Trochet, Bernard Prudhon
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Abstract
The invention relates to an allele specific siRNA able to silence the expression of only one allele of a heterozygous DNM2 gene, for treating diseases caused by heterozygous mutation and/or overexpression of Dynamin 2.
Claims9
An allele specific siRNA (AS-siRNA) that comprises a sequence mismatch and is able to silence the expression of only one allele of a heterozygous DNM2 gene in a cell, wherein the DNM2 gene is heterozygous for the presence of a disease-causing mutation, wherein said AS-siRNA targets a region of a human DNM2 gene transcript comprising said disease-causing mutation, wherein the disease-causing mutation is 1393C>T;
- c.1105C>T, c.1106G>A, c.1856C>T or c.1948G>A, and wherein the AS-siRNA comprises a sense strand and an antisense strand and the antisense strand only contains bases selected from the group consisting of guanine, cytosine, adenine, uracil, and deoxythymidine.
Dependencies are inferred from the claim text.