PTC124 - New drug may cure genetic diseases

hi to every one, my sons hematologists recommends him spleenectomy, do u have any relative or do  urself submit for spleenectomy? what is the result? does it lessen the trnsfusion? my son is being trnsfused every three months..he was diagnosed last year for beta thalassemia major

Hi Christian and welcome to the site

I guess  that your son is a thalassemia intermedia since he is now 11 years and he was only diagnoised last year. What is his Hb level ??

Manal

Wow, the drug sounds amazing!
Andy, what are your thoughts?

O.k is Thal. a "nonsense" mutation?

Sajid,

Many of the beta thal mutations do fall into the category of nonsense mutations. These would theoretically be helped by methods to fix the MRNA path. Not all thalassemias fall into that category. In many cases of beta thal, the mutation is a deletion or partial deletion, so this would not apply.

http://www.medterms.com/script/main/art.asp?articlekey=4580

Nonsense mutation: A mutation (a change) in a base in the DNA that prematurely stops the translation (reading) of messenger RNA (mRNA) resulting in a polypeptide chain that ends prematurely and a protein product that is truncated (abbreviated) and incomplete and usually nonfunctional.

The nonsense mutation converts a codon (a triplet of bases) that encodes an amino acid into a stop codon, one that specifies the termination of translation. There are three nonsense codons (UAG, UAA, and UGA) in mRNA. One of them comes normally at the end of each polypeptide. A nonsense codon is a stop codon which is out of place.

Catching such a defective messenger RNA (mRNA) before a truncated and potentially harmful protein is synthesized is the job of what is called the nonsense-mediated mRNA decay (NMD) pathway.

Sharmin,

I do think this technology holds a lot of promise for many genetic disorders including many thalassemias. Since thalassemia is somewhat a catch all term for genetic hemoglobin disorders, it includes what are actually many different types of mutations. PTC124 may eventually be used with some of these thalassemias but not all. I do think it will probably be awhile before this is applied to thalassemia, as the main research currently involves other health problems like muscular dystrophy.

Andy,
you said "Many of the beta thal mutations do fall into the category of nonsense mutations. These would theoretically be helped by methods to fix the MRNA path. Not all thalassemias fall into that category"
 could you please tell me the different causes of thalassemia.
you said ptc124 will only benefit a certain thal group.
i'd love to research the differernt cures we are approaching for alll the different types of thals.
thanks

When talking about beta thalassemia we must always remember that many different mutations of the beta globin gene are all called thalassemia even though these mutations have very different local effects within the chromosome.

There are various types of beta globin defects and mutations that affect the production of beta globin. Some are outright deletions of the gene, as with beta zero. These would not be helped by correcting the MRNA messaging. However, many mutations are of a variety where the gene is basically malformed, disrupting the normal messaging path of MRNA. The result is that the command to produce beta globin does not follow the correct path. It is almost like a car going down a one way dead end street. The goal of correcting MRNA messaging is to get it to direct the command down the right street.

thank you for the quick reply!
i'm keeping my eye on

HQK-1001
grt BY Dr. Robert H. Broyles
GENE THERAPY THROUGH THALAGEN
INUTERO STEM CELL TRANSPLANT USING MOTHER'S STEM CELLS
jak2 inhibitor

what do you think should be added to this list

There's a lot of potential.  Hopefully it's just a matter of time before new options of treatment are available.