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This is an early access version, the complete PDF, HTML, and XML versions will be available soon.
Article

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

by
Simone D’Angiolini
,
Agnese Gugliandolo
,
Gabriella Calì
* and
Luigi Chiricosta
IRCCS Centro Neurolesi “Bonino-Pulejo”, Contrada Casazza, Via Provinciale Palermo, 98124 Messina, Italy
*
Author to whom correspondence should be addressed.
Int. J. Mol. Sci. 2025, 26(15), 7303; https://doi.org/10.3390/ijms26157303
Submission received: 14 July 2025 / Revised: 24 July 2025 / Accepted: 25 July 2025 / Published: 28 July 2025
(This article belongs to the Special Issue Research in Alzheimer’s Disease: Advances and Perspectives)
Versions Notes

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.
Keywords: Alzheimer’s disease; mild cognitive impairment; splicing; ribosome; translation; transcriptomic data; peripheral blood Alzheimer’s disease; mild cognitive impairment; splicing; ribosome; translation; transcriptomic data; peripheral blood

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MDPI and ACS Style

D’Angiolini, S.; Gugliandolo, A.; Calì, G.; Chiricosta, L. Early Dysregulation of RNA Splicing and Translation Processes Are Key Markers from Mild Cognitive Impairment to Alzheimer’s Disease: An In Silico Transcriptomic Analysis. Int. J. Mol. Sci. 2025, 26, 7303. https://doi.org/10.3390/ijms26157303

AMA Style

D’Angiolini S, Gugliandolo A, Calì G, Chiricosta L. Early Dysregulation of RNA Splicing and Translation Processes Are Key Markers from Mild Cognitive Impairment to Alzheimer’s Disease: An In Silico Transcriptomic Analysis. International Journal of Molecular Sciences. 2025; 26(15):7303. https://doi.org/10.3390/ijms26157303

Chicago/Turabian Style

D’Angiolini, Simone, Agnese Gugliandolo, Gabriella Calì, and Luigi Chiricosta. 2025. "Early Dysregulation of RNA Splicing and Translation Processes Are Key Markers from Mild Cognitive Impairment to Alzheimer’s Disease: An In Silico Transcriptomic Analysis" International Journal of Molecular Sciences 26, no. 15: 7303. https://doi.org/10.3390/ijms26157303

APA Style

D’Angiolini, S., Gugliandolo, A., Calì, G., & Chiricosta, L. (2025). Early Dysregulation of RNA Splicing and Translation Processes Are Key Markers from Mild Cognitive Impairment to Alzheimer’s Disease: An In Silico Transcriptomic Analysis. International Journal of Molecular Sciences, 26(15), 7303. https://doi.org/10.3390/ijms26157303

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