Ataluren PTC124 is a small-molecule drug that has shown promise in the treatment of genetic disorders caused by nonsense mutations. Nonsense mutations are genetic defects that result in the production of truncated or non-functional proteins, which can lead to a variety of serious health problems. Ataluren PTC124 works by promoting the read-through of these mutations, allowing the production of full-length, functional proteins. This has the potential to improve disease outcomes and quality of life for patients with certain genetic disorders.
Chemical Name, Molecular Formula, Formula Weight, and CAS No:
The chemical name for Ataluren PTC124 is (3-[5-(2-fluorophenyl)-1,2,4-oxadiazol-3-yl]benzoic acid). Its molecular formula is C15H9FN2O3, and its formula weight is 284.242 g/mol. The CAS number for Ataluren PTC124 is 775304-57-9.
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Health Benefits of this Product:
Ataluren PTC124 has the potential to provide significant health benefits for patients with specific genetic disorders caused by nonsense mutations. These may include Duchenne muscular dystrophy, cystic fibrosis, and spinal muscular atrophy, among others. By promoting translational read-through of these mutations, Ataluren PTC124 can allow the production of functional proteins, which may improve muscle function, respiratory function, and overall quality of life in affected individuals.
Potential Effects:
In clinical studies, Ataluren PTC124 has been shown to increase the production of full-length, functional proteins in cells and animal models with nonsense mutations. In addition, it has been shown to improve muscle function, respiratory function, and other clinical outcomes in patients with Duchenne muscular dystrophy who have specific nonsense mutations. However, the effects of Ataluren PTC124 may vary depending on the specific genetic disorder and nonsense mutation present in the patient.
Product Mechanism:
Ataluren PTC124 works by promoting translational read-through of nonsense mutations. Specifically, it binds to the ribosome, the molecular machine responsible for protein synthesis, and allows it to ignore the premature stop codon caused by the nonsense mutation. This enables the ribosome to continue translating the mRNA molecule and produce a full-length, functional protein.
Safety:
Ataluren PTC124 has been generally well-tolerated in clinical trials. However, like all medications, it may cause side effects in some patients. Common side effects include headache, nausea, vomiting, diarrhea, and abdominal pain. Serious adverse events are rare but may include liver toxicity, allergic reactions, and cardiac events. Patients should be monitored closely for any signs of adverse reactions while taking Ataluren PTC124.
Dosing Information:
The recommended dose of Ataluren PTC124 varies depending on the patient's age, weight, and the specific genetic disorder and nonsense mutation present. In general, the approved dosages range from 10 mg/kg to 40 mg/kg per day, administered orally in tablet form. The medication should be taken with food to enhance absorption.
Conclusion:
Ataluren PTC124 represents a novel approach to the treatment of genetic disorders caused by nonsense mutations. By promoting translational read-through of these mutations, Ataluren PTC124 has the potential to enable the production of full-length, functional proteins, thereby improving disease outcomes and quality of life for affected individuals. While further research is needed to fully understand its efficacy and safety, Ataluren PTC124 holds promise as a potentially transformative therapy for patients with certain genetic disorders
