For the first time, scientists have cleanly corrected a human gene mutation in a patient’s stem cells. The result, reported in Nature brings the possibility of patient-specific therapies closer to becoming a reality.
Scientists, at the Wellcome Trust Sanger Institute and the University of Cambridge, were working on cirrhotic liver disease caused by alpha-1 antitrypsin deficiency. The deficiency is caused by a change to a single pair of letters, out of the six billion which make up the genetic code. As a result a protective protein called alpha-1 antitrypsin is badly formed and it cannot escape from the liver where it is made. The mutation is one of the most common genetic conditions and it affects one in 2,500 people in Europe. Diseases which stem from this are even rarer and they include cirrhosis of the liver and, because the antitrypsin cannot circulate to the lungs, emphysema.
The only solution is a liver transplant, but this requires a lifetime of drugs to prevent organ rejection.
The research group took a skin cell from a patient and converted it to a stem cell. Stem cells are ‘indifferentiated’, that is to say they can term unto any type of cell needed within the body. A molecular scalpel was used to cut out the single mutation and insert the right letters – correcting the genetic fault. The stem cells was then turned into a liver cells. One of the lead researchers, Professor David Lomas, said: “They functioned beautifully with normal secretion and function”.
Professor Lomas is a Patron of the Alpha 1-Awareness UK charity.
For more information follow these links:
There was also an interview with Professor Lomas in the BBC Radio 4 Today programme broadcast on 13th October 2011 at 7:20 am. The interview is available on BBC i-Player.