Scientists at the University of Nottingham have taken a step closer towards developing a treatment for muscular dystrophy.
In a paper published in the journal Science Translational Medicine, scientists from the Schools of Life Sciences and Chemistry at the University, have discovered that by inhibiting a molecule in patients’ cells called CDK12, they can potentially develop a therapy to alleviate some of the symptoms, and help treat this incurable condition.
Myotonic dystrophy is a long-term genetic disorder that affects muscle function. It is the most common form of muscular dystrophy in adults and affects about one in 8,000 people. There is currently no treatment available.
Symptoms include gradually worsening muscle loss and weakness. Muscles often contract and are very slow to relax. Other symptoms may include cataracts, intellectual disability and heart conduction problems.
Some patients have a very mild form and others have severe form, where they are congenitally affected from birth.
This is due to the molecular underpinning of the condition, which is caused by a dynamic mutation; a triplet repeat expansion, in which three base pairs of DNA are present in different copy numbers. In the general population people have 5-30 copies of this DNA sequence.
In patients with myotonic dystrophy– this particular segment of DNA becomes bigger than it is in the general population, often with hundreds of copies of the triplet repeat.
The faulty gene produces a faulty RNA which contains the expansion sequence, (RNA is a macromolecule essential for all known forms of life which transfers information from DNA in the nucleus to the cytoplasm of a cell where it makes proteins). The faulty RNA gets stuck in the nuclei of myotonic dystrophy patients’ cells, resulting in disruption to many cellular processes.
In this new study, scientists have discovered that through the inhibition of the molecule CDK12 – the additional faulty RNA disappears, and so reduces the symptoms of the condition.
