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Molecular Subtyping of Mild Cognitive Impairment Based on Genetic Polymorphism and Gene Expression

H-T Li1, S-X Yuan, J-S Wu

  • 1Xiao Sun, State Key Laboratory of Bioelectronics, School of Biological Science and Medical Engineering, Southeast University, Nanjing 210096, P. R. China, xsun@seu.edu.cn.

The Journal of Prevention of Alzheimer'S Disease
|February 11, 2021
PubMed
Abstract

Insights

Researchers identified two distinct subtypes of Mild Cognitive Impairment (MCI) using genetic and gene expression data. These subtypes show different progression rates to Alzheimer's Disease (AD), highlighting MCI's heterogeneity.

Area of Science:

  • Neuroscience
  • Genetics
  • Biomarkers

Background:

  • Alzheimer's Disease (AD) is a prevalent neurodegenerative disorder in aging populations.
  • Recent research indicates that AD exhibits significant heterogeneity.
  • Mild Cognitive Impairment (MCI) represents a preclinical stage of AD.

Purpose of the Study:

  • To identify distinct subtypes of MCI.
  • To investigate the molecular basis of MCI heterogeneity using genetic polymorphism and gene expression data.
  • To assess the clinical implications of identified MCI subtypes regarding progression to AD.

Main Methods:

  • Utilized genetic polymorphism and gene expression profiling from peripheral blood samples of MCI patients (ADNI-1 dataset).
  • Applied the Similarity Network Fusion (SNF) algorithm for clustering MCI subtypes.
  • Validated the identified subtypes using an independent cohort (ADNI-2 dataset).

Main Results:

  • Identified two distinct subtypes of MCI based on molecular profiles.
  • Demonstrated a statistically significant difference in the conversion rate from MCI to AD between the two subtypes (p-value = 4.58×10-3).
  • Observed variations in cognitive decline (Alzheimer's Disease Assessment Scale-Cognitive) and brain structure (MRI) between subtypes, linked to differentially expressed genes.

Conclusions:

  • MCI is a heterogeneous condition, with distinct subtypes exhibiting differential risks of progressing to Alzheimer's Disease.
  • Genetic polymorphism and gene expression profiling from blood samples serve as non-invasive, cost-effective biomarkers for identifying MCI subtypes.
  • These findings support the clinical application of molecular profiling for personalized risk assessment and management of MCI patients.
Keywords:
Alzheimer’s diseasemild cognitive impairmentmolecular subtypingsimilarity network fusion

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