Frataxin Sentence Examples
The gene for FA codes for a protein called frataxin.
Normal frataxin is found in the cellular energy structures known as mitochondria, where it is thought to be involved in regulating the transport of iron.
In FA, the frataxin gene on chromosome 9 is expanded when a particular sequence of bases in the DNA is repeated too many times.
Ordinarily, there are seven to 22 repeats of the frataxin gene; in FA, this sequence may be repeated between 800 to 1,000 times.
This extra DNA interferes with normal production of frataxin, thereby impairing iron transport.
The triplet repeat expansion seems to interfere with the normal assembly of amino acids into proteins, significantly reducing the amount of frataxin that is made.
Without a normal level of frataxin, some of the body's cells-especially those of the brain, spinal cord, and muscle-cannot handle the normal amounts of "oxidative stress," which the mitochondria produce.
When excess iron in the cells (as a result of the deficiency of frataxin) reacts with oxygen, free radicals are produced.