frataxin

Frataxin is a mitochondrial protein that plays a crucial role in cellular energy production. It is encoded by the FXN gene in humans. The primary function of frataxin is to assist in the assembly of iron-sulfur clusters (ISCs), which are essential cofactors for a variety of enzymes involved in critical cellular processes, including DNA repair, cellular respiration, and heme biosynthesis.

Deficiency in frataxin protein leads to impaired mitochondrial iron homeostasis. This imbalance results in the accumulation of iron within the mitochondria, a condition known as iron overload. This excess iron can contribute to oxidative stress, damaging cellular components and impairing mitochondrial function.

The most well-known condition associated with frataxin deficiency is Friedreich's ataxia (FA). FA is a rare, inherited neurodegenerative disorder characterized by progressive ataxia, muscle weakness, and sensory deficits. It is typically caused by mutations in the FXN gene, leading to reduced frataxin levels. The progressive loss of neurons, particularly in the spinal cord and cerebellum, is a hallmark of the disease. Research into frataxin and its function is central to understanding the pathogenesis of FA and developing potential therapeutic strategies.