Treatment for muscular dystrophy developed

Shinya Yamanaka, the Nobel Prize winning scientist, is not a man to rest on his laurels. Following his Nobel Prize for the process of reprogramming adult cells into a state similar to embryonic stem cells, he has led a team at Kyoto University to find a therapy for Duchenne muscular dystrophy, They  used a ground breaking technique known as genome-editing to turn patient skin cells into healthy muscle cells.

Duchenne muscular dystrophy is a genetic disorder, affecting one in every 3,500 males. Gene mutations impact the production of a protein known as dystrophin. Without this key structural protein muscle fibre damage can occur and lead to a gradual weakening of the muscle. Ultimately this leads to a shortened life span: the average life expectancy is as low as 27 years.

The process involves converting skin cells from patients suffering with the condition into induced pluripotent stem (IPS) cells. These cells are capable of forming a wide range of other cell types: in this particular case, skeletal muscle cells.

Scientist used a new procedure called genome editing to correct the faulty gene responsible for producing dystrophin. They did this by using enzymes to remove the faulty pieces of genetic information from the patients IPS, replacing it with the correct sequence. The researchers found that the IPS cells once developed into skeletal muscle cells were able to produce dystrophin. Once in the body it is hoped they would fuse to muscle tissue and provide enough dystrophin to boost existing muscle tissue. By using the patientís cells it avoids the risk of rejection by the immune system.

Whilst not a cure for the condition, this treatment aims to alleviate some of the worst symptoms such as problems with breathing and repeated chest infections. This in turn should lead to a greater quality of life and reduced levels of required care. Although problems arise with the transplant of the muscle cells into patients, it looks a promising therapeutic technique that utilises the brilliant work of Professor Yamanaka.


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March 2021
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