Contents 1 Pharmacotherapy of Cystic Fibrosis 1.1 Potentiators 1.2 Correctors 1.3 Termination Suppressors 1.3.1 References

Pharmacotherapy of Cystic Fibrosis

Pharmacotherapy relates to the use of chemical drugs to regulate and improve the function of defective CFTR channels.^[1]

Potentiators

Example: VX-770

Attempt to correct Class III and Class IV CFTR mutations by increasing the conductance of the CFTR channel.

Correctors

Example: Trimethyl-oxide

Attempt to correct Class II CFTR mutations by improving the trafficking of CFTR channels to the Cell Membrane.

Termination Suppressors

Example: Gentamicin, G41, PTC124 (Ataluren^[2])

Suppress termination mutations which would normal result in premature termination and truncation of the protein. These drugs are designed to restore 'read-through' and enable the production of normal CFTR.

^[3]

References

1. ↑ David L. Rimoin, J. Michael Connor, Reed E. Pyeritz, Bruce R. Korf (2007). Emery and Rimoin's Principles and Practice of Medical Genetics e-dition. 5th ed. Amsterdam: Elsevier. p1354-1394
2. ↑ http://www.ptcbio.com/3.1.1_genetic_disorders.aspx
3. ↑ http://www.ptcbio.com/3.1.1_genetic_disorders.aspx