FA is a neurodegenerative disease
It is is one of the most common autosomal-recessively inherited disorder, meaning that both biological parents must carry the trait
How it's caused
FA is caused by expanded guanine-adenine-adenine (GAA) triplet repeats in the frataxin gene.
This results in reduction of messenger RNA and protein levels of frataxin in different tissues throughout the body
Frataxin deficiencies in FA affect the nervous, cardiovascular, endocrine, and musculoskeletal systems
Actually Frataxin is a protein associated with the inner mitochondrial membrane, which is essential for normal cell functioning
So, Within the mitochondrial membrane, frataxin is used to move iron and form iron-sulfur clusters.
Now Inadequate frataxin results in iron accumulation, ....which leads to..... degenerative changes in the spinal cord, ....dorsal root ganglia and....
cardiovascular system[3].
![](https://s2.save4k.ru/pic/9qMzRo5Cu3A/maxresdefault.jpg)