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Function
Structure and Mechanism
Disease and Disorders
There are 12 known mutations in the human erythrocyte catalase gene that have been found to cause acatalasemia (5). Acatalasemia is an autosomal recessive (1) condition in which human erythrocyte catalase levels are very low (1). Most people are asymptomatic and are diagnosed because a family member is affected (1). However, although they are asymptomatic, they have an increased risk of chronic diseases.
Acatalasemia can be correlated with ulcers and gangrene. When this occurs, the condition is known as Takahara disease (1). Ulcers and gangrene can result from high levels of hydrogen peroxide that is normally produced from bacteria. Mutations in the human erythrocyte catalase gene tend to reduce the activity of human erythrocyte catalase (1) to less than 10% of its normal activity (2) thus reducing the enzymes ability to degrade hydrogen peroxide and causing a build-up of hydrogen peroxide. This build-up in turn causes ulcers and gangrene.
A similar condition to acatalasemia is hypocatalasemia, in which each cell of the human erythrocyte catalase only has one gene with a mutation, instead of both genes with a mutation. This single mutation cuts the activity of human erythrocyte catalase by about half. Similar to acatalasemia, this condition normally doesn’t cause health issues (2).
Acatalasemia is also associated with type 2 diabetes mellitus, the most common form of diabetes (1). The build-up of hydrogen peroxide from the decrease in human erythrocyte catalase can damage beta cells in the pancreas (1). The pancreas releases insulin, which helps your body regulate your blood sugar level. However, the damaged beta cells cannot utilize the insulin as well as normal beta cells, which leads to type 2 diabetes mellitus (PRIMARY SOURCE). These defective beta cells are thought to be why people with acatalasemia have an increased risk for type 2 diabetes mellitus (1). A larger percentage of people with diabetes have acatalasemia than those with diabetes without acatalasemia. Those with acatalasemia also tend to develop diabetes at an earlier age (1).
Common variations in the human erythrocyte gene and variations in the regions of DNA that help to regulate the gene’s activity may also lead to an increased risk of a person developing specific common, complex diseases such as hypertension, osteoporosis, and heart attack and stroke due to the elevated levels of cholesterol and other fats in the blood (1,3,4). However, not all people experience health problems when they have a loss of catalase activity and others do not have an identified mutation in the human erythrocyte catalase gene when they have a loss in catalase activity. The cause of both of these situations is unclear. Some researched hypothesize that the activity is also influenced by other genetic factors as well as environmental conditions (1,5).
Regulation
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