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research index

Thank you to our friends at Cure Duchenne for sharing this information.

Exon skipping using antisense oligonucleotides

Exon skipping employs synthetic DNA-like molecules called antisense as a "DNA band-aid" to skip over the parts of the gene (exons) that block the effective creation of dystrophin.

Stop codon read through

Around 15% of DMD patients have stop codon mutations. Some experimental molecules can cause muscle cells to "read through" or “ignore” erroneous stop signals in the gene.

Exon skipping with gene transfer

Exon skipping can also be induced by recombinant virus vectors containing modified small nuclear [sn] RNA gene.

Gene therapies

Gene therapies typically employ recombinant virus vectors and aim to correct or induce genes to rescue the pathology of DMD.

Cell therapies

Various types of stem cells give rise to muscle progenitor cells and potentially rescue muscular dystrophies.

Utrophin Upregulation

Utrophin is a protein similar to dystrophin and compensate for loss of strength and function due to defective dystrophin in muscles.

Myostatin inhibition

Myostatin inhibition leads to muscle hypertrophy and potentially ameliorate the pathology of muscular dystrophies.

TGFβ Inhibition/Anti-Fibrosis

Various experimental molecules can block TGFβ-mediated collagen synthesis.

NF-kB inhibition/anti inflammatory

Several experimental molecules reduces the adverse effects of NF-κB signalling.

TNF-alpha inhibition

TNF-alpha is pro-inflammatory, pro-fibrotic, and pro-NFKB. TNF-α is found to be elevated in DMD and in mdx muscles.

Anti-Oxidants

Anti-oxidants decrease muscle necrosis in dystrophic mdx mice and protects against reactive oxygen species.

IGF-1

A growth factor IGF-1 is involved in muscle hypertrophy.

α7-integrin upregulation

Increasing α7-integrin promotes muscle cell proliferation, adhesion, and resistance to apoptosis.

nNOS pathway enhancement 

nNOS is a member of dystrophin complex and involved in vasodilatation.

Angiotensin converting enzyme (ACE) inhibitor/ beta-blocker for cardiomyopathy management

Angiotensin-converting enzyme inhibitors are used in the management of cardiomyopathy.

Corticosteroid

Corticosteroid is a useful palliative treatment.

Other

Other miscellaneous strategies.

If you would like to discuss any research projects in further detail please email tony@duchennenow.org or paulf@duchennenow.org

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