What is FSHD?

FSHD is caused by a sudden structural transformation in the DNA. This hereditary defect causes a deletion at the end of chromosome 4. The specific genetic location of the FSHD deletion is 4q35, in the D4Z4 DNA region. A deletion of the repetitive sequence of 4q35 is almost always found in FSHD patients. In the summer of 2010 researchers discovered that when this piece of DNA is missing a protein is produced which is detrimental to human muscles. This results in loss of muscle strength in the skeletal muscles.  In approximately 2% of studied cases the cause has no connection with chromosome 4. If the FSHD defect on chromosome 4 is inherited a person will in all likelihood develop muscular weakness. The new technology developed by Hubert Institute in Utrecht offers a possible solution to the problem.

The new technology is based on the genetic scissor technique (CRISPR-Cas) which is probably one of the most fascinating discoveries of this century. With the help of CRISPR-Cas we can cut the faulty gene exactly the way we want. There is one problem however:  it is not easy to get these scissors in our cells. Up until now the scientists have tried to get the scissors in the cells with the help of a virus. This technique – genetherapy - is still not precise and is unpredictable.

Another method, iTop, works through combining two ingredients. One of the key ingredients here is natriumchloride, better known as kitchen salt. The salt absorbs the water from the cells and activates the process called macropinocytose (drinking liquid in big portions). This way the relevant correction molecules added to the liquid will get absorbed by the cells. The other ingredient activates the repair system within the cells once it gets there.