Tuesday 17 January 2012
Highlights from the International Myotonic Dystrophy Consortium meeting
The 8th meeting the International Myotonic Dystrophy Consortium (IDMC-8) took place in Florida from 30 November to 3 December 2011. The meeting, which takes place every two years, brought together more than 200 scientists and clinicians from around the world to discuss the latest scientific developments and ideas for myotonic dystrophy therapies.
John Kelly whose two grandsons have myotonic dystrophy attended the conference and here he tells us his highlights. John is a member of our Talk Research group and also sits on our lay panel - a committee that has a say in what research the Muscular Dystrophy Campaign funds from the point of view of people directly or indirectly affected by muscle disease.
Progress towards a therapy
Many, from both sides of the Atlantic, said it was the best IDMC to date. There were many uplifting reports on progress towards a therapy; to name but a few:
- Andrew Berglund from the University of Oregon reminded us, in summing up his talk about the development of therapies for myotonic dystrophy, how far we have come over the past eight years. This can be measured by the number of presentations at each IDMC meeting that is focused on therapy development. In 2003 and 2005 only five presentations were on research for a therapy, which has grown to 14 in 2007 and 23 in 2009, the figure now stands at 26 for IDMC-8. This is a five fold increase in six years!
- Dick Moxley from the University of Rochester said:Treatment really is on the horizon... I believe we are on the path to a new treatment, something I thought I would never be able to say years ago.He also stressed the importance of setting up myotonic dystrophy patient registries worldwide in preparation for clinical trials.
- David Brook's laboratory at Nottingham University reported that they had identified two compounds which reduce 'RNA foci' in a zebrafish model of mytonic dystrophy (please read the background information below to learn more about RNA foci). The Muscular Dystrophy Campaign funded the early stages of this research and now further research is ongoing with the hope of bringing these potential treatments to clinical trial.
- Charles Thornton's laboratory at the University of Rochester reported that a mouse model of myotonic dystrophy had been treated with antisense oligonucleotides (AOs) to help restore muscle. Up to 80 percent of muscle strength had been regained for 12 months, after a single injection, without any serious side effects. Further testing in mice is ongoing which, if successful, should lead to a human clinical trial in USA in 2013. Read about this therapeutic approach here.
- It was good to hear at the meeting about companies investing in the development of treatments for myotonic dystrophy. ProSensa, Isis and Genzyme were listed as three biotechnology/pharmaceutical companies who are using their expertise to develop compounds from basic research to clinical trials in the quest for a therapy for myotonic dystrophy.
Patients and families updated in interactive session
The undoubted highlight occurred on the last day when 200 IDMC members joined forces with 400 family members of the Myotonic Dystrophy Foundation for an interactive five hour session. This meeting provided the patient community with the opportunity to meet and hear firsthand the progress that researchers world-wide are making towards treatments for myotonic dystrophy. This was streamed live on the internet and can be watched here:
Background information
There are two different types of mytonic dystrophy - DM1 and DM2. The mutation responsible for the most common form of myotonic dystrophy - DM1 - was identified 19 years ago and it is ten years since the mutation for DM2 was published. Over this period researchers have understood an increasing amount about the underlying cause of DM1 and DM2, both of which are caused by the expansion of a repeated section of DNA.
DM1 is caused by a change in a gene called DMPK. In a healthy individual this gene contains a three letter code that is repeated 30 or fewer times whereas in a person with myotonic dystrophy it is repeated many hundreds of times. This repetitive piece of DNA is made into RNA - the carbon copy of DNA which normally carries genetic messages from the cell nucleus to the rest of the cell (the cytoplasm) where proteins are made. However, the faulty RNA containing the extra repeats is trapped in the nucleus of DM1 cells and is not processed properly. It does not move to the cytoplasm as it should, and instead appears as distinct spots that can be seen using a microscope. These are sometimes called 'RNA foci'. The trapped repetitive RNA tends to bind to other proteins in the nucleus which prevents them from performing their normal functions. In particular, a protein called 'muscleblind' is trapped in these spots. This protein is involved in the processing of several other genes which have important roles around the body, such as controlling muscle contraction.
Further information and links
More information about myotonic dystrophy.
Read about Professor David Brook's research in Target Research magazine.
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