Study Unveils Near-Definite Alzheimer's Risk for APOE4 Homozygotes

• 07 May 2024

On 6th May 2024, Researchers unveiled a groundbreaking study, indicating that individuals carrying two copies of the APOE4 gene variant face an almost certain risk of developing Alzheimer's disease.

Key Points

• Genetic Redefinition: The study suggests that individuals carrying two copies of the APOE4 gene variant may be reclassified as having a distinct genetic form of Alzheimer's, rather than just a risk factor.
• Research Implications: The reclassification could significantly impact Alzheimer's research, diagnosis, and treatment approaches, potentially leading to a paradigm shift in understanding the disease.
• Study Findings: Researchers found that APOE4 homozygotes exhibit abnormal levels of Alzheimer's-related proteins by age 65, with nearly all individuals showing higher levels of amyloid compared to non-carriers.
• Clinical Significance: Individuals with two copies of APOE4 are likely to develop Alzheimer's earlier than those without the gene variant, prompting a need for early intervention and tailored treatment strategies.
• Treatment Considerations: The findings have implications for Alzheimer's treatments like Leqembi, which may pose higher risks for individuals with two copies of APOE4 due to increased rates of brain bleeding and swelling.
• Genetic Disease Criteria: The study suggests that APOE4 homozygotes meet the criteria for a genetic disease, demonstrating consistent Alzheimer's biology, symptom onset, and predictable clinical and biological changes.
• Need for Further Research: While the study sheds light on Alzheimer's risk among individuals of European ancestry, more research is needed to understand the genetic implications in other populations, such as those of African descent.