How genetic mutations cause Friedreich’s ataxia

F A is an inherited or single-gene disorder. Genetic Mutations or DNA changes in the FXN gene cause F A. F A is inherited in an autosomal recessive manner, meaning that individuals with F A have two mutated or abnormal copies of the FXN gene, this means both biological parents must be a carrier of the disease for a child to be affected. It is estimated that 1 in 100 people are carriers, and carriers do not exhibit symptoms of F A. Each such carrier parent has one mutated gene (allele) and one normal gene (allele) in the FXN gene. Because each child gets one of the mother’s genes and one of the father’s genes in this location, there are four possible combinations of the genes passed down to the child or a 25% chance that the child will have F A.
The F A gene mutation limits the production of a protein called frataxin. Frataxin is known to be an important protein that functions in the mitochondria (the energy-producing factories) of the cell. Frataxin helps to move iron and is involved with the formation of iron-sulfur clusters, which are necessary components in the function of the mitochondria and thus energy production. We also know that specific nerve cells (neurons) degenerate in people with F A, and this is directly manifested in the symptoms of the disease.