Methods and means for efficient skipping of at least one of the following exons of the human duchenne muscular dystrophy gene: 43, 46, 50-53

a technology of duchenne muscular dystrophy and skipping method, which is applied in the directions of antinoxious agents, peptide/protein ingredients, metabolic disorders, etc., can solve the problems of muscle functional impairment and absence of functional dystrophin

Inactive Publication Date: 2011-10-27
ACADEMISCH ZIEKENHUIS BIJ DE UNIV VAN AMSTERDAM ACADEMISCH MEDISCH CENT +2
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

Myopathies are disorders that result in functional impairment of muscles.
DMD mutations in the DMD gene are characterized by frame shifting insertions or deletions or nonsense point mutations, resulting in the absence of functional dystrophin.

Method used

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  • Methods and means for efficient skipping of at least one of the following exons of the human duchenne muscular dystrophy gene: 43, 46, 50-53
  • Methods and means for efficient skipping of at least one of the following exons of the human duchenne muscular dystrophy gene: 43, 46, 50-53
  • Methods and means for efficient skipping of at least one of the following exons of the human duchenne muscular dystrophy gene: 43, 46, 50-53

Examples

Experimental program
Comparison scheme
Effect test

examples 1-4

Materials and Methods

[0100]AON design was based on (partly) overlapping open secondary structures of the target exon RNA as predicted by the m-fold program, on (partly) overlapping putative SR-protein binding sites as predicted by the ESE-finder software. AONs were synthesized by Prosensa Therapeutics B.V. (Leiden, Netherlands), and contain 2′-O-methyl RNA and full-length phosphorothioate (PS) backbones.

Tissue Culturing, Transfection and RT-PCR Analysis

[0101]Myotube cultures derived from a healthy individual (“human control”) (examples 1, 3, and 4; exon 43, 50, 52 skipping) or a DMD patient carrying an exon 45 deletion (example 2; exon 46 skipping) were processed as described previously (Aartsma-Rus et al., Neuromuscul. Disord. 2002; 12: S71-77 and Hum Mol Genet. 2003; 12(8): 907-14). For the screening of AONs, myotube cultures were transfected with 50 nM and 150 nM (example 2), 200 nM and 500 nM (example 4) or 500 nM only (examples 1 and 3) of each AON. Transfection reagent UNIFect...

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PUM

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Abstract

The invention relates a method wherein a molecule is used for inducing and/or promoting skipping of at least one of exon 43, exon 46, exons 50-53 of the DMD pre-mRNA in a patient, preferably in an isolated cell of a patient, the method comprising providing said cell and/or said patient with a molecule. The invention also relates to said molecule as such.

Description

[0001]This U.S. patent application is a continuation of PCT / NL2009 / 050113, filed on Mar. 11, 2009 which claims priority to PCT / NL2008 / 050673, filed on Oct. 27, 2008, which claims priority to European application no. 07119351.0, filed on Oct. 26, 2007, which claims the benefit of U.S. provisional patent application No. 61 / 000,670, filed on Oct. 26, 2007, the entirety of which is incorporated herein by reference. The invention relates to the field of genetics, more specifically human genetics. The invention in particular relates to modulation of splicing of the human Duchenne Muscular Dystrophy pre-mRNA.BACKGROUND OF THE INVENTIONField[0002]Myopathies are disorders that result in functional impairment of muscles. Muscular dystrophy (MD) refers to genetic diseases that are characterized by progressive weakness and degeneration of skeletal muscles. Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are the most common childhood forms of muscular dystrophy. They are re...

Claims

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Application Information

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Patent Type & Authority Applications(United States)
IPC IPC(8): A61K31/7088C12N5/071C12N15/85C07H21/02A61P21/00
CPCA61K31/56A61K31/57A61K38/1719C12N2310/321C12N2310/11C12N2310/315C12N2320/33C12N15/113A61K48/00A61K2300/00A61K31/522A61K31/7088A61K45/06A61K48/0058A61K31/573A61K31/58A61P21/00A61P21/02A61P21/04A61P29/00A61P3/14A61P39/06A61P43/00A61P25/28C12N2310/3521C12N2310/111C12N2310/31C12N2310/313C12N2310/314C12N2310/3181C12N2310/3231C12N2310/3233C12N2310/346C12N2320/31
Inventor DE KIMPE, JOSEPHUS JOHANNESPLATENBURG, GERARDUS JOHANNESVAN DEUTEKOM, JUDITH CHRISTINA THEODORAAARTSMA-RUS, ANNEMIEKEVAN OMMEN, GARRIT-JAN BOUDEWIJN
Owner ACADEMISCH ZIEKENHUIS BIJ DE UNIV VAN AMSTERDAM ACADEMISCH MEDISCH CENT
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