Friedreich Ataxia (FA) is a hereditary condition that adversely affects the nervous system, leading to issues with movement and muscle coordination, also known as ataxia. This disease was named after the German scientist who first identified it. The rate at which FA progresses can vary from person to person. Typically, individuals with FA will require the use of a wheelchair within ten to twenty years from the onset of initial symptoms. In the later stages of the illness, complete incapacitation may occur. However, it is worth noting that individuals with milder forms of FA can live into their sixties or seventies, showcasing the variability in its impact.
Inheriting Friedreich Ataxia
Friedreich Ataxia, a rare genetic disorder, is primarily caused by a mutation in the FXN gene. This gene is responsible for encoding a crucial protein known as frataxin. Only individuals who inherit two copies of the mutated FXN genes are at risk of developing Friedreich Ataxia, making it a recessive condition. What sets Friedreich Ataxia apart from other genetically inherited disorders, except for sex-linked disorders, is the requirement of two copies of the mutated gene for the condition to manifest.
Mechanics
Mitochondria, the powerhouse of cells, rely on frataxin to generate energy efficiently. However, when the levels of frataxin are insufficient, cells struggle to produce energy, leading to various consequences. One such consequence is oxidative stress, a process where toxins accumulate and harm cells. This effect is particularly prominent in the peripheral nerves, spinal cord, brain, and heart cells. Another theory suggests that the deficiency of frataxin results in an excess of iron within the mitochondria. This surplus mineral then reacts with oxygen to produce free radicals, which have the potential to cause cellular damage.