Today in the Times Online anarticleintroduces a new type of medication. CalledPTC124, this medication allows ribosomes to "pass-over" nonsense mutations, allowing for fully transcribed protein. The functional properties of PTC124 are similar to the aminoglycoside antibiotic gentamicin, but the two compounds are chemically distinct and PTC124 does not exhibit any antibiotic characteristics. In vitro experiments showed PTC124 to be superior to gentamicin at ribosomal read-through of nonsense mutations. Currently the drug has passed Phase II trials ofDuchenne Muscular Dystrophyand ofCystic Fibrosis
If we look at disease burden in rare genetic diseases,nonsense mutations(mutations coding for a stop sequence in the middle transcription, resulting in a truncated protein/mRNA) make up a significant amount of afflicted patients. Here is apress releasefrom the company. It does turn out that this company is privately held, but I am sure Genzyme or another company is looking for a new M&A target.
Here's what the Gene Sherpa says, PTC124 could hold tremendous promise however I will await phase III trial results. There are always unanticipated outcomes, possibly tumorigenesis(cancer creation). Trials are currently recruiting if you are interested.That being said, we may see the development of other molecules designed to overcome our genetic shortcomings.
Lastly I just want to be perfectly clear about what I had said in a previous email. It may alienate me from other blogs, or hired gun blogs for certain DTC testing companies. Just look for the Gene Sherpa link. If it's gone on your favorite blogs, then chances are we have a shill. When Han Solo told Luke that travelling through Lightspeed isn't like dusting crops I am certain he was talking about genetic testing. In home testing has no place in this world, unless it is guided by a TRAINED professional. I hope too many people will not be harmed by this senseless promotion of testing without counseling. No offense to other doctorates, but I took an oath to help or at least do no harm.Primum NonNocereUnfortunately, most of the professionals marketing these tests have not. The physicians employed by them perhaps have forgotten this oath.