[Stuttgart, Paris, October 17, 2024] – ZNM – Zusammen Stark! e. V. is pleased to announce the funding of the groundbreaking project “Silence-CNM”. This project is led by Dr. Marc Bitoun from the National Institute of Health and Medical Research (Inserm), France and will receive a grant of €66,000. The aim of the project is to develop an innovative therapy for the treatment of centronuclear myopathies (CNM) – rare muscle diseases caused by mutations in the MTM1, DNM2 and BIN1 genes.
What are centronuclear myopathies (CNM)?
Centronuclear myopathies (CNMs) are rare and highly debilitating congenital muscle diseases characterized by abnormal positioning of nuclei in muscle fibres. They result in muscle weakness and severe disability. There are currently no effective treatments for these diseases, underlining the urgent need for innovative therapeutic approaches to improve the lives of affected patients.
Why “Silence-CNM”?
The team led by Dr. Marc Bitoun at Inserm in Paris will focus on reducing the activity of the enzyme dynamin, which is highly active in patients with CNM due to mutations in the genes MTM1, DNM2 and BIN1. By restoring the enzymatic balance, this research aims to improve muscle strength and increase the life expectancy of those affected, based on promising results from preclinical studies, Cowling).
Innovative approach: RNA interference-mediated allele-specific silencing
In this new project, Dr. Bitoun will use a natural cellular mechanism called “RNA Interference-Mediated Allele-Specific Silencing“. Further information on this approach can be found at the end of this press release.
Dr. Bitoun’s team will develop siRNA and shRNA molecules that can target and knock out the most common CNM mutation (R465W in the DNM2 gene). They will use these molecules to demonstrate their functional efficacy in muscle cells from patients with centronuclear myopathies with mutations in the XLMTM, DNM2 and BIN1 genes, paving the way for clinical trials.
Hope for a new treatment
This research could enable a new therapy that reduces the harmful effects of CNM mutations and significantly improves the quality of life of those affected. Dr. Marc Bitoun expressed his optimism: “This grant is a crucial step towards developing a viable treatment for CNM. Our research results so far show that allele-specific elimination is effective and gives new hope to patients and their families.”
Frank Schulte, treasurer of ZNM – Zusammen Stark! e.V., shared his gratitude and optimism: “As the father of a child with CNM, I understand the profound impact this disease has on daily life. The ‘Silence-CNM’ project means hope for all of us. This funding brings us one step closer to a possible treatment. We are incredibly grateful for the support and commitment of our researchers and donors”
Support our mission
We extend our heartfelt thanks to our donors, research collaborators and external reviewers whose continued support has made this groundbreaking research possible. As we continue to advance our understanding and treatment of centronuclear myopathies, we invite you to continue to support our research through donations to find treatments for CNM patients.
Would you like to support our work?
About ZNM – Zusammen Stark! e.V.
ZNM – Zusammen Stark! e. V. is a self-help association for myotubular myopathy and other centronuclear myopathies (CNM). We represent 258 people from 92 families with a CNM in Germany, the Netherlands, Austria, Switzerland and Belgium. As a self-help organization, our main goal is to connect those affected and their families and to support each other in everyday life. This is mainly done through our annual family conference, webinars and our closed online support group. We are also actively investing in research to find a treatment for these diseases. For more information, please visit www.znm-zusammenstark.org
About INSERM
Founded in 1964, Inserm is a public scientific and technological institute under the authority of the French Ministries of Health and Research. The institute is dedicated to biomedical research and human health and is active in all areas, from the laboratory to the patient’s bedside. It also collaborates with the world’s most prestigious research organizations dedicated to scientific challenges and progress in these fields.
What does RNA interference-mediated allele-specific silencing mean?
RNA Interference-Mediated Allele-Specific Silencing is a complex scientific approach, to understand it we will break it down into simpler terms:
What is RNA interference?
RNA interference (RNAi) is like a natural security system in your cells. It helps to control which genes are active and which are not. Genes are made up of DNA and act like instruction manuals for the production of enzymes that perform various tasks in your body.
How does RNAi work?
What is allele-specific silencing?
In some genetic diseases, such as centronuclear myopathies (CNM), there is a faulty version of a gene (a so-called mutation) that causes an imbalance of several enzymes. Some enzymes are produced in excess, such as dynamin 2, while others are produced too little or not at all. Allele-specific silencing helps as follows:
How does this help CNM?
This approach is aimed at people with CNM:
Improvement of symptoms: This can help restore normal muscle function and reduce the symptoms of the disease.
Reduction in the activity of dynamin: By switching off the faulty gene, less dynamin is produced.
Maintenance of normal dynamin production: The normal gene can continue to produce the enzymes required for healthy cell function.
Judith Wartenburger
Assistant to the board of
ZNM – Together Strong! e.V
Tel.: 01515 4820534
Email: judith.wartenburger@znm-zusammenstark.org
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