SNP Shot: Genomic Insights

Acatalasemia is defined by extremely low catalase enzyme levels in the body. Often, individuals with acatalasemia remain asymptomatic and are only identified when the condition is found in their relatives.

Early reports of acatalasemia documented cases where individuals developed oral ulcers that progressed to gangrene. This specific presentation of acatalasemia, involving mouth ulcers and gangrene, is known as Takahara disease. However, these severe complications are now uncommon, likely due to improved oral hygiene practices.

Research indicates a potential link between acatalasemia and an increased risk of type 2 diabetes, the most prevalent form of diabetes. Individuals with acatalasemia have a higher incidence of type 2 diabetes compared to the general population, and the onset of the disease often occurs at a younger age, typically in their 30s or 40s. While limited research exists, scientists hypothesize that acatalasemia may also elevate the risk for other complex diseases.

Inheritance:

Acatalasemia follows an autosomal recessive inheritance pattern. This means that both copies of the CAT gene in an individual's cells must carry mutations for the condition to manifest. Having two mutated copies of the gene reduces catalase activity to below 10% of normal levels. Conversely, if only one copy of the CAT gene is mutated, catalase activity is reduced by approximately half, a state known as hypocatalasemia. Similar to acatalasemia, hypocatalasemia is generally not associated with health problems.