A new collaborative 3-year project of two groups at the FHRC has secured significant funding from the Jane and Aatos Erkko Foundation and will now be able to intensify their research on the molecular mechanisms behind muscle disorders. This research opens for the possibility of better diagnostics and novel therapeutic options for patients with neuromuscular disorders.
Inherited neuromuscular disorders affect some 20 000 people in Finland, and many of them are still without a genetic diagnosis. This prevents patients getting an accurateprognosis for their disease,or precise genetic counselling, and may even lead to patients gettingthe wrong treatment. This new research focuses on improved bioinformatics and protein functions to increase the diagnostic yield and to better understand the pathogenetic mechanisms.
Senior scientists Katarina Pelin and Peter Hackman are both collaborating leaders of this research project.
– I’m so excited about this collaborative project. Now, we can focus on the research without having to worry too much about the funding, saysDocent Katarina Pelin.
Docent Katarina Pelin is an experienced researcher at the FHRC.
– I agree and I think we can achieve much more by combining the skills and knowledge of both groups, continues Docent Peter Hackman.
The next step in their research is to find possibilities for future treatments. Disease genes and disease-causing mutationsneed to be functionally characterized if we are to understand the disease mechanisms and to find new therapeutic options.
– We will now be able to set up new methods and expand our functional studies of proteins involved in muscle disorders, says Pelin.
An enormous muscle protein called titin, and the so calledtitinopathies whichare caused by mutations in the titin gene, are of key interest in their research. Their aim is to develop a new functional screening method of pathological proteolytic cleavage of titin that is caused by a subset of disease-causing mutations. Proteolytic cleavageis the process of proteolytic enzymesbreaking long chainlike molecules of proteins into shorter fragmentsand eventually into their components, simple amino acids. A high-throughput screening method will be developed and used for identification of small molecular weight drugs that are able to modify the pathological proteolytic cleavage of titin.
– In the long run this will help the patients suffering from titinopathies, says Hackman.
Docent Peter Hackman has studied neuromuscular disorders extensively.
Another aim is to find common denominators for sub-groups of muscle disorders caused by mutations in different genes, which would enable development of new treatments for specific groups of muscle disorders. One such example is myosin dysfunction, that seems to be a common denominator for a sub-group of muscle disorders which appear early in life. This finding has opened the possibility to test theefficacy of myosin-targeting drugs that are already on the market.
– Our post-doctoral researcher Jenni Laitila is currently working on this part of the project in Copenhagen, and her preliminary results are very promising. Jenni Laitila will be able to transfer the project, novel methods and her expertise to FHRC thanks to the Erkko funding, says Pelin.
– We will get a new doctoral student, starting in 2023, who will work jointly for both groups on solving the cause of muscular disease in previously unsolved cases, adds Hackman.
The FHRC may be the only laboratory in the world with a collection of samples from patients with neuromuscular disorders of this magnitude. This will enable this research to provide a considerable number of unsolved patients with diagnoses, as well as better diagnostic processes and therapeutic options for them.
Simon Granroth, Science Communicator
