Which are the causes of Acatalasemia?

Acatalasemia is a rare genetic disorder characterized by the absence or significantly reduced levels of an enzyme called catalase. Catalase plays a crucial role in breaking down hydrogen peroxide, a harmful byproduct of cellular metabolism, into water and oxygen. Without sufficient catalase activity, hydrogen peroxide accumulates within cells, leading to oxidative stress and damage.

The primary cause of Acatalasemia is a mutation in the CAT gene, which provides instructions for producing the catalase enzyme. This mutation can result in a complete absence of catalase or a severely reduced enzyme activity. Acatalasemia is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to develop the disorder.

Several specific mutations in the CAT gene have been identified as causes of Acatalasemia. One of the most common mutations is known as the Japanese type, which is prevalent in the Japanese population. Other mutations have been reported in different ethnic groups, including the Swiss, Hungarian, and Spanish types of Acatalasemia.

While the exact mechanisms by which the absence or reduction of catalase leads to the symptoms of Acatalasemia are not fully understood, researchers believe that the accumulation of hydrogen peroxide plays a significant role. Hydrogen peroxide is a reactive oxygen species that can damage DNA, proteins, and lipids within cells. The oxidative stress caused by hydrogen peroxide accumulation is thought to contribute to the various clinical manifestations of Acatalasemia.

Acatalasemia is typically asymptomatic, meaning that affected individuals do not show any noticeable signs or symptoms. However, in rare cases, some individuals may experience oral ulcerations, gum infections, or other oral health issues. These symptoms are believed to be associated with the increased susceptibility to oxidative damage in the oral cavity due to the lack of catalase activity.

It is important to note that Acatalasemia is a rare disorder, and most individuals with the condition lead normal, healthy lives without any significant health complications. Diagnosis of Acatalasemia is usually confirmed through genetic testing, which can identify the specific mutations in the CAT gene.

In summary, Acatalasemia is primarily caused by mutations in the CAT gene, leading to the absence or reduced activity of the catalase enzyme. This genetic disorder is inherited in an autosomal recessive manner and is typically asymptomatic. The accumulation of hydrogen peroxide and subsequent oxidative stress are believed to contribute to the development of Acatalasemia, although the exact mechanisms are not fully understood.