Grunnleggende konsepter
A genetic variant in the FN1 gene is associated with a 70% reduction in the risk of Alzheimer's disease among APOE4 carriers.
Sammendrag
The content discusses a new genetic variant that has been found to be associated with a significantly reduced risk of Alzheimer's disease (AD) in individuals who are APOE4 carriers. The variant occurs in the fibronectin 1 (FN1) gene, which expresses fibronectin, an adhesive glycoprotein that lines the blood vessels at the blood-brain barrier and controls substances moving in and out of the brain.
Individuals with AD tend to have excess fibronectin in the blood-brain barrier, which is believed to contribute to the development of the disease. However, the FN1 variant appears to give APOE4 carriers the ability to clear amyloid from the brain before symptoms begin to manifest.
The researchers estimate that 1-3% of APOE4 carriers in the United States, which translates to 200,000-620,000 people, may have this protective mutation. The findings were replicated in an independent sample of over 7,000 APOE4 carriers, and the combined data showed that the FN1 variant rs140926439 was associated with a significantly reduced risk of AD (odds ratio of 0.29) and a 3.4-year delay in symptom onset.
The researchers hope to use these findings to develop therapies that can reduce excess fibronectin and provide protection against AD, particularly for APOE4 carriers.
Statistikk
The FN1 variant rs140926439 was associated with a 70% reduction in the risk of Alzheimer's disease in APOE4 carriers.
The FN1 variant rs140926439 delayed the onset of Alzheimer's disease symptoms by 3.4 years.
Approximately 1-3% of APOE4 carriers in the United States, or 200,000-620,000 people, may have the protective FN1 variant.
Sitater
"Alzheimer's disease may get started with amyloid deposits in the brain, but the disease manifestations are the result of changes that happen after the deposits appear."
"Anything that reduces excess fibronectin should provide some protection, and a drug that does this could be a significant step forward in the fight against this debilitating condition."