# Early Dysregulation of RNA Splicing and Translation Processes Are Key Markers from Mild Cognitive Impairment to Alzheimer’s Disease: An In Silico Transcriptomic Analysis

## TL;DR

This study identifies early changes in RNA splicing and translation in mild cognitive impairment and Alzheimer's disease using blood transcriptomic data.

## Contribution

The study reveals dysregulation of splicing and translation processes as key markers from MCI to AD using transcriptomic analysis.

## Key findings

- Transcriptomic analysis shows altered ribosomal formation and biogenesis in MCI and AD patients.
- RNA splicing processes are significantly dysregulated in both MCI and AD stages.
- Findings suggest potential for non-invasive early diagnosis and therapeutic strategies for AD.

## Abstract

About one billion people worldwide are affected by neurologic disorders. Among the various neurologic disorders, one of the most common is Alzheimer’s disease (AD). AD is a neurodegenerative disorder that progressively affects cognitive functions, disrupting the daily lives of millions of individuals. Mild cognitive impairment (MCI) is often considered a prodromal stage of Alzheimer’s disease. In this article, we retrieved data from the online available dataset GSE63060, which includes transcriptomic data of 329 blood samples, of which there are 104 cognitively normal controls, 80 MCI patients, and 145 AD patients. We used transcriptomic data related to all three groups to perform an over-representation analysis of the gene ontologies followed by a network analysis. The aim of our study is to pinpoint alterations, detectable through a non-invasive method, in biological processes affected in MCI that persist during AD. Our goal is to uncover transcriptomic changes that could support earlier diagnosis and the development of more effective therapeutic strategies, starting from the early stages of the disease, to slow down or mitigate its progression. Our work provides a consistent picture of the transcriptomic unbalance of many genes strongly involved in ribosomal formation and biogenesis and splicing processes both in patients with MCI and with AD.