Genetics: Pill that corrects faulty gene out in 2009
A medication that may correct faulty genes causing illnesses like cystic fibrosis looks set to hit the market in 2009.
According to PTC Therapeutics, a biopharmaceutical company, a pill has been developed that will correct a wide range of faulty genes that cause crippling illnesses. The drug, dubbed PTC124, has already had encouraging results in patients with Duchenne muscular dystrophy (DMD) and cystic fibrosis.
The research, published in Nature, also suggested that it should work against more than 1,800 other genetic illnesses. According to the researchers, it will be potentially useful against a range of inherited disorders.
The drug will be available for oral use and safety tests have not revealed any major side effects. However, patients would be required to take the medication for life.
The drug works by allowing cells to read through certain mistakes in, for example, the genetic code for a protein missing in 15% of patients with DMD. PTC124 binds a part of the cell called the ribosome, which translates genetic code into protein, and allows it to ignore "nonsense mutations".
A nonsense mutation is a defect affecting about 5% to 15% of genetic conditions. It works by introducing a command in the gene that stops production of cells making proteins.
Other diseases that can be caused by nonsense mutations include beta thalassaemia, a blood disorder and Hurler syndrome in which children's mental and physical development stops and most patients die by the age of 10.
Lead researcher, Dr Sweeney, who sits on the scientific advisory board for PTC Therapeutics, which is testing the drug, said: "This new class of treatment has the potential to help a large number of patients with different genetic diseases that have the same type of mutation."
The study stated: "The selectivity of PTC124 for premature termination codons, its well characterised activity profile, oral bioavailability and pharmacological properties indicate that this drug may have broad clinical potential for the treatment of a large group of genetic disorders with limited or no therapeutic options".
The results of the test - which scientists carried out on mice with a mutation that causes DMD - showed the drug starts dystrophin production and restored their muscles to health.
