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Gene mutation may hold key to muscular dystrophy treatment

16 November 2015

By Jenny Sharpe

Appeared in BioNews 828

Researchers have discovered a gene linked to Duchenne muscular dystrophy (DMD) after a dog bred to model the disease was found to have a protective mutation against it.

The mutation was in a development gene called JAG1, which has never before been linked to muscular dystrophy. Scientists hope that this gene could be a target for new approaches to treating DMD.

'All the genetic therapies tested so far, with little success, have targeted the gene that codes for the protein dystrophin. We're presenting a different approach, which opens up a range of new possibilities,' said Professor Mayana Zatz, who co-led the study that was published in Cell.

Duchenne muscular dystrophy is a genetic disorder caused by a lack of dystrophin, a protein that helps to hold muscle fibres together. The gene coding for dystrophin is situated on the X chromosome, meaning DMD usually only affects males (but females can be carriers). It is the most common and most rapidly progressing type of muscular dystrophy; affected boys are typically wheelchair bound by 10–12 years old.

'Without special care, patients don't reach the age of 20. Nowadays, with assisted breathing, they may survive until they're 40 or beyond,' said Professor Zatz.

While most dystrophin-deficient dogs do not live past two years old, the mildly affected dog, Ringo, survived for 11 years, which is normal for his breed. One of Ringo's offspring inherited the JAG1 mutation and is currently nine years old.

Dystrophin-deficient dogs have also been the subjects of a gene-therapy study that aims to treat DMD by reintroducing a miniature version of the dystrophin gene.

'Due to its size, it is impossible to deliver the entire [dystrophin] gene with a gene therapy vector,' explained Professor Dongshen Duan, who led the gene therapy study that was published in Human Molecular Genetics.

He added: 'Through previous research, we were able to develop a miniature version of this gene called a microgene. This minimised dystrophin protected all muscles in the body of diseased mice.'

Professor Duan and his team have now demonstrated that a virus can be safely used to deliver micro-dystrophin to muscles of dystrophin-deficient dogs. The researchers injected the dogs with the virus when they were around two months old and beginning to show signs of DMD. The researchers found that the gene was present in skeletal muscle and the heart and diaphragm. The dogs are now six to seven months old and continuing to develop normally.

'The virus we are using is one of the most common viruses; it is also a virus that produces no symptoms in the human body, making this a safe way to spread the dystrophin gene throughout the body,' said Professor Duan.

He added: 'These dogs develop DMD naturally in a similar manner to humans. It's important to treat DMD early before the disease does a lot of damage as this therapy has the greatest impact at the early stages in life.'

Voice of America | 22 October 2015
Genetic Engineering and Biotechnology News | 23 October 2015
Eurekalert (press release) | 22 October 2015
Cell | 12 November 2015
Nature News | 12 November 2015
Human Molecular Genetics | 15 October 2015
Eurekalert (press release) | 12 November 2015


09 October 2017 - by Emma Laycock 
Scientists have repaired the faulty gene in a mouse model of muscular dystrophy by using gold nanoparticles to deliver the genome editing tool CRISPR-Cas9...
31 July 2017 - by Jenny Sharpe 
A safe and effective gene therapy treating Duchenne muscular dystrophy in dogs has been demonstrated...
13 February 2017 - by Caroline Casey 
Scientists have identified a unique form of congenital muscular dystrophy, characterised by short stature, intellectual disabilities and cataracts...
11 January 2016 - by Jenny Sharpe 
Scientists in the USA have shown that the genome-editing technique CRISPR can improve muscle function in a mouse model of Duchenne muscular dystrophy...
14 December 2015 - by Dr Jane Currie 
A litter of puppies has been born through IVF for the first time, reports a study that has implications not only for veterinary medicine but also for human genetic research...

26 October 2015 - by Isobel Steer 
Scientists in China have used the gene-editing technique CRISPR/Cas9 to create dogs with increased muscle mass...
07 October 2013 - by Robert Meadowcroft and Neil Bennett 
The families of children and young people with the severe genetic muscle-wasting condition Duchenne muscular dystrophy received a heavy blow last week...
23 September 2013 - by Dr Anna Cauldwell 
A highly anticipated experimental treatment for the genetic condition Duchenne Muscular Dystrophy has failed in a key test of its effectiveness in a critical phase III clinical trial.
09 September 2013 - by James Brooks 
A parliamentary report has recommended a ring-fenced fund to ensure access to 'low volume, high cost' treatments for rare diseases...
01 July 2013 - by Simon Hazelwood-Smith 
Scientists have for the first time been able to switch on and off the effects of a genetic disease, myotonic dystrophy, in human muscle tissue...

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