Preprint Article Version 1 Preserved in Portico This version is not peer-reviewed

Gene Expression Profiling of Post Mortem midbrain of Parkinson’s Disease patients and Healthy Controls

Michele Salemi
* ORCID logo ,
Maria Ravo
ORCID logo ,
Giuseppe Lanza
ORCID logo ,
Francesca A. Schillaci
ORCID logo ,
Giovanna Maria Ventola
,
Giovanna Marchese
,
Maria Grazia Salluzzo
,
Graziella Cappelletti
,
Raffaele Ferri
ORCID logo
Version 1 : Received: 14 November 2023 / Approved: 15 November 2023 / Online: 15 November 2023 (07:11:39 CET)

A peer-reviewed article of this Preprint also exists.

Salemi, M.; Ravo, M.; Lanza, G.; Schillaci, F.A.; Ventola, G.M.; Marchese, G.; Salluzzo, M.G.; Cappelletti, G.; Ferri, R. Gene Expression Profiling of Post Mortem Midbrain of Parkinson’s Disease Patients and Healthy Controls. Int. J. Mol. Sci. 2024, 25, 707. Salemi, M.; Ravo, M.; Lanza, G.; Schillaci, F.A.; Ventola, G.M.; Marchese, G.; Salluzzo, M.G.; Cappelletti, G.; Ferri, R. Gene Expression Profiling of Post Mortem Midbrain of Parkinson’s Disease Patients and Healthy Controls. Int. J. Mol. Sci. 2024, 25, 707.

Abstract

Parkinson's disease (PD) stands as the most prevalent degenerative movement disorder, characterized by the loss of dopaminergic neurons in the substantia nigra of the midbrain. In this study, we assessed the transcriptome by analyzing post-mortem mRNA extracted from the substantia nigra of individuals with PD and healthy controls. A total of 16,148 transcripts were identified, with 92 mRNAs displaying differential expression between PD and control groups. Specifically, 33 mRNAs were significantly upregulated, while 59 mRNAs were downregulated in PD compared to controls. The identification of statistically significant signaling pathways, with an adjusted p-value threshold of 0.05, unveiled noteworthy insights. Particularly, enriched categories included cardiac muscle contraction (involving genes such as ATPase Na+/K+ transporting subunit beta 2 (ATP1B2), solute carrier family 8 member A1 (SLC8A1), and cytochrome c oxidase subunit II (COX2)), GABAergic synapse (involving GABA type A receptor-associated protein like 1 (GABARAPL1), G protein subunit beta 5 (GNB5), and solute carrier family 38 member 2 (SLC38A2)), autophagy (involving GABARAPL1 and tumor protein p53-inducible nuclear protein 2 (TP53INP2)), and Fc gamma R-mediated phagocytosis (involving amphiphysin (AMPH)). These findings uncover new pathophysiological dimensions underlying PD, including the involvement of cardiac muscle contraction and specific mitochondrial activity. This knowledge not only contributes to better diagnostic precision but also paves the way for the development of new targeted therapies.Keywords: mRNAs; RNA sequencing; Parkinson’s disease; transcriptome analysis; substantia nigra

Keywords

mRNAs; RNA sequencing; Parkinson’s disease; transcriptome analysis; substantia nigra

Subject

Biology and Life Sciences, Biochemistry and Molecular Biology

Copyright: This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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