Summary: Researchers examined the role of genetics and educational attainment in early-onset Alzheimer’s disease, specifically focusing on carriers of the PSEN1 E280A mutation.
They found that carriers with an additional high-risk mutation, APOE e4, experienced faster cognitive decline, while those with a protective APOE e2 mutation had delayed onset. Remarkably, higher educational attainment was associated with preserved cognitive function, even among those with the highest genetic risk.
The study suggests that education could serve as a “cognitive reserve,” helping to mitigate the impacts of genetic risk factors on Alzheimer’s onset.
The study looked at 675 people who carry the PSEN1 E280A mutation, predisposing them to early onset Alzheimer’s with a median age of onset at 49.
Carriers of an additional high-risk mutation, APOE e4, experienced accelerated cognitive decline, whereas those with the protective APOE e2 mutation had a delayed onset.
Higher educational attainment was found to preserve cognitive ability, even in the presence of strong genetic factors, offering a potential “cognitive reserve.”
Source: Mass General
A new study by researchers from Mass General Brigham further illustrates that when it comes to risk of Alzheimer’s disease, even genetically determined forms of the disease, genetics is only one piece of the puzzle.
Researchers investigated the influence of genetics and educational attainment on cognitive decline by studying data from 675 people who carry a mutation that predisposes them to early onset Alzheimer’s disease.
Carriers of this mutation—known as PSEN1 E280A—have a median age of 49 for onset of dementia.
The team found that among carriers who also carried a second mutation that puts them at heightened risk—APOE e4—had an accelerated age of onset of cognitive decline. Among carriers who had an APOE e2 mutation—known to be protective—age of onset was delayed.
The team also assessed the effect of educational attainment on cognitive function among PSEN1 E280A mutation carriers, including those who carried different APOE genotypes.
They found that higher educational attainment—that is, more years of education—was associated with preserved cognitive ability particularly for those at highest genetic risk.
“Higher educational attainment may have a protective effect against cognitive impairment, even in the presence of strong genetic risk factors,” said corresponding author Yakeel Quiroz PhD, a clinical neuropsychologist and neuroimaging researcher, director of the Familial Dementia Neuroimaging Lab in the Departments of Psychiatry and Neurology at Massachusetts General Hospital.
“Despite the additional risk conferred by APOEe4, the strongest genetic risk factor for sporadic Alzheimer’s disease, our results suggest that educational attainment may be a critical mechanism of cognitive reserve in familial Alzheimer’s disease.”
The research team included investigators from Massachusetts General Hospital, Brigham and Women’s Hospital, Mass Eye and Ear, and national and international collaborators.
About this education and Alzheimer’s disease research news
Author: Leslie Perez Source: Mass General Contact: Leslie Perez – Mass General Image: The image is credited to Neuroscience News
Effect of apolipoprotein genotype and educational attainment on cognitive function in autosomal dominant Alzheimer’s disease
Autosomal dominant Alzheimer’s disease (ADAD) is genetically determined, but variability in age of symptom onset suggests additional factors may influence cognitive trajectories. Although apolipoprotein E (APOE) genotype and educational attainment both influence dementia onset in sporadic AD, evidence for these effects in ADAD is limited.
To investigate the effects of APOE and educational attainment on age-related cognitive trajectories in ADAD, we analyzed data from 675 Presenilin-1 E280A mutation carriers and 594 non-carriers.
Here we show that age-related cognitive decline is accelerated in ADAD mutation carriers who also have an APOE e4 allele compared to those who do not and delayed in mutation carriers who also have an APOE e2 allele compared to those who do not. Educational attainment is protective and moderates the effect of APOE on cognition.
Despite ADAD mutation carriers being genetically determined to develop dementia, age-related cognitive decline may be influenced by other genetic and environmental factors.