The association between TOMM40 gene polymorphism and spontaneous brain activity in amnestic mild cognitive impairment
Xiaoyan Liu1, Feng Bai, Chunxian Yue
1Department of Neurology, First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, 310003, Zhejiang, China.
Abstract:
The outer mitochondria membrane 40 homolog (TOMM40) is thought to be involved in the mitochondrial function and to influence the susceptibility for the development of AD. To determine whether TOMM40 rs157581 polymorphism is a plausible modulator of spontaneous brain activity in amnestic mild cognitive impairment (aMCI) patients, 46 aMCI subjects and 21 healthy controls were recruited and explored. Each individual was firstly genotyped for TOMM40 rs157581 and was further assessed by resting-state functional MRI to evaluate regional brain activity using amplitude low-frequency fluctuation analysis (ALFF). aMCI patients showed decreased ALFF in the left inferior frontal gyrus and insula, and increased ALFF in right posterior cingulate, lingual gyrus and calcarine sulcus. A significant difference in the interaction of "groups × genotypes" was observed in the bilateral superior frontal gyrus, bilateral lingual gyrus, right calcarine sulcus and left cerebellum. These results demonstrated a pattern of change in ALFF values, in which increased and subsequently decreased ALFF values in parallel with the progression of aMCI symptoms. The present study shows for the first time that TOMM40 rs157581 polymorphism may modulate regional spontaneous brain activity and related to the progression of aMCI.
Insights
The TOMM40 rs157581 gene variant may alter brain activity patterns in mild cognitive impairment. This genetic factor could influence the progression of amnestic mild cognitive impairment (aMCI) by modulating spontaneous brain activity.
Area of Science:
- Neuroscience
- Genetics
- Medical Imaging
Background:
- The TOMM40 gene is implicated in mitochondrial function and Alzheimer's disease susceptibility.
- Mild cognitive impairment (MCI) is a precursor to Alzheimer's disease, characterized by cognitive decline.
- Understanding genetic modulators of brain activity in MCI is crucial for early detection and intervention.
Purpose of the Study:
- To investigate if the TOMM40 rs157581 polymorphism influences spontaneous brain activity in amnestic mild cognitive impairment (aMCI) patients.
- To explore the relationship between TOMM40 genotype, brain activity patterns, and aMCI progression.
Main Methods:
- Recruited 46 aMCI patients and 21 healthy controls.
- Genotyped participants for the TOMM40 rs157581 polymorphism.
- Utilized resting-state functional MRI (fMRI) with amplitude of low-frequency fluctuations (ALFF) analysis to assess regional brain activity.
Main Results:
- aMCI patients exhibited decreased ALFF in the left inferior frontal gyrus and insula, and increased ALFF in the right posterior cingulate, lingual gyrus, and calcarine sulcus.
- Significant "groups × genotypes" interactions were found in the bilateral superior frontal gyrus, bilateral lingual gyrus, right calcarine sulcus, and left cerebellum.
- Observed a pattern of increasing then decreasing ALFF values correlating with aMCI symptom progression.
Conclusions:
- The TOMM40 rs157581 polymorphism may modulate regional spontaneous brain activity in individuals with aMCI.
- This genetic variation is potentially linked to the progression of amnestic mild cognitive impairment.
- Findings suggest TOMM40 genotype as a factor influencing brain activity dynamics in early cognitive decline.
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