Genetic testing has been identified as an important tool in determining treatments for Alzheimer’s disease, particularly in cases of the familial form of the disease. Researchers have recently discovered that this inherited form of Alzheimer’s may actually be a separate disease rather than a subtype. This new understanding suggests that the inherited form may be more common than previously thought and highlights the significance of the APOE gene in genetic testing for Alzheimer’s.
The APOE gene comes in several different forms, with APOE4 being associated with an increased risk of developing Alzheimer’s. In individuals with two copies of the APOE4 gene, the risk is even higher. Recent research has shown that this particular gene variant may be indicative of a genetic form of Alzheimer’s that differs from other forms of the disease. While some experts believe that APOE4 may represent a subtype of Alzheimer’s rather than an entirely separate disease, the new findings have significant implications for understanding and managing the condition.
A study conducted by researchers in the United States and Spain compared individuals with two copies of the APOE4 gene to those with other forms of the APOE gene. They found that those with two copies of APOE4 were more likely to develop Alzheimer’s at an earlier age and experienced more severe symptoms compared to individuals with other gene variants. This suggests that having two copies of APOE4 may constitute a genetic form of Alzheimer’s, distinct from other forms of the disease.
While individuals with one copy of the APOE4 gene also face an increased risk of developing Alzheimer’s, having two copies is associated with a higher likelihood of beta-amyloid and tau build-up in the brain. This new research suggests that genetic testing for APOE4 could help identify individuals at higher risk of developing Alzheimer’s, leading to more personalized treatment and management strategies. However, genetic testing for Alzheimer’s is not currently standard practice for individuals diagnosed with the disease.
One specific treatment for Alzheimer’s, lecanemab, has shown promise in clearing amyloids from the brain. However, individuals with two copies of the APOE4 gene are more likely to experience negative side effects, such as brain swelling, from this medication. Knowing whether a patient has two copies of APOE4 could be crucial in determining the safety and efficacy of treatment options. As research on the genetic underpinnings of Alzheimer’s continues to evolve, genetic testing may play an increasingly important role in diagnosing and managing the disease.
