Final answer:
Friedreich ataxia involves a mutation in the frataxin gene that impairs mitochondrial function, leading to less energy production in cells and a variety of symptoms. Mitochondrial diseases can be caused by mutations in mitochondrial or nuclear DNA, with diverse symptoms due to the mixture of damaged and normal mitochondria in cells. Specialized medical geneticists known as Mitochondrial Disease Physicians treat these disorders.
Step-by-step explanation:
The mutation of the frataxin gene in Friedreich ataxia is associated with the impairment of mitochondrial function because the frataxin protein is crucial for proper mitochondrial operation. Mitochondrial diseases are genetic disorders of metabolism that result from mutations in either nuclear or mitochondrial DNA. These mutations can lead to the production of less energy in the body's cells, because they impair the critical reactions of cellular respiration, including oxidative phosphorylation. In the case of mitochondrial diseases such as type 2 diabetes, the efficiency of NADH oxidation is reduced, which impacts energy production. Symptoms can include muscle weakness, lack of coordination, stroke-like episodes, and loss of vision and hearing, which may be diagnosed in childhood or adulthood.
Inherited mitochondrial diseases can be caused by damage to DNA in either the cell nucleus or in the mitochondria. Mitochondria have their own separate DNA, supporting the endosymbiotic theory of their evolution. When the DNA within mitochondria is damaged or mutated, it can result in mitochondrial diseases, which may explain the diversity in symptom severity and onset among affected individuals within the same family. Treatment and diagnosis of these mitochondrial disorders involve specialists such as Mitochondrial Disease Physicians, who are highly educated medical geneticists.