Hub genes and diagnostic model associated with mitochondrial function in Alzheimer's disease

Area of Science:

• Neuroscience
• Genetics
• Mitochondrial Biology

Background:

• Alzheimer's disease (AD) is a leading neurodegenerative disorder.
• Mitochondrial dysfunction is a known factor in AD.
• Identifying AD-associated genes and early diagnostic markers related to mitochondrial function is crucial.

Purpose of the Study:

• To identify novel pathogenic genes in Alzheimer's disease.
• To explore potential mitochondrial biomarkers for early AD diagnosis.
• To validate identified genes in AD mouse models.

Main Methods:

• Utilized the GSE132903 dataset containing non-demented (ND) and AD samples.
• Employed differential gene expression analysis and weighted gene co-expression network analysis.
• Intersected gene sets with a mitochondrial database to identify hub genes, followed by molecular validation in APP/PS1 and 5xFAD mouse models.

Main Results:

• Identified four hub genes: SYNJ2BP, VDAC1, NUBPL, and COX19.
• Found elevated expression of SYNJ2BP, NUBPL, and COX19, and reduced VDAC1 expression in AD samples.
• Observed consistent expression patterns for SYNJ2BP and NUBPL in the hippocampus of AD mouse models.

Conclusions:

• The identified hub genes may serve as potential biomarkers for early Alzheimer's disease diagnosis.
• These genes can contribute to developing new models for studying AD pathogenesis.
• Further research into these mitochondrial-related genes could advance AD understanding and treatment.