Research articleAltered spontaneous brain activity pattern in cognitively normal young adults carrying mutations of APP, presenilin-1/2 and APOE ε4

- Cognitively normal young APP/presenilin-1/2 and APOE ε4 carriers had different spontaneous brain activity patterns.
- Regional homogeneity algorithm is helpful in detecting local brain functional alteration.
- APP/presenilin-1/2 carriers have decreased spontaneous brain activity in the temporal lobe.
- ReHo may detect genetic effect on regional brain function in cognitively normal young adults.

ObjectiveTo explore genetic effects of amyloid precursor protein (APP), presenilin-1/2 and apolipoprotein E (APOE) ε4 on brain structural and functional alterations in cognitively normal young adults.Materials and methodsEighty healthy adults (mean age 24.0 ± 2.5 years; n = 18, APP/presenilin-1/2 group; n = 31, APOE ε4 group; n = 31, control group [without above-mentioned gene mutation]) underwent high-resolution T1-weighted 3D anatomical imaging, resting-state functional MR imaging and neuropsychological assessments. We used voxel-based morphometry and regional homogeneity (ReHo) algorithms to investigate brain structural and functional changes among three groups, and performed correlation analyses between the brain regions with statistically significant difference and neuropsychological results.ResultsNo brain structural changes were found, however, ReHo values were increased in right parietal-frontal lobes in APOE ε4 group, and decreased in the left middle temporal gyrus in APP/presenilin-1/2 group compared with controls (all P < 0.05). Compared with APOE ε4 group, decreased ReHo values of bilateral temporal lobes were shown in APP/presenilin-1/2 group (P < 0.05). ReHo values of right superior frontal gyrus in APOE ε4 group positively correlated with neuropsychological tests scores(P < 0.05).ConclusionCognitively normal young adults carrying APOE ε4 or APP/presenilin-1/2 had different spontaneous brain activity patterns without cerebral structural differences.