Transcriptoma - ELA - Sant Pau Memory Unit - Barcelona

Characterization of the transcriptome of the motor cortex in amyotrophic lateral sclerosis

What is the transcriptome and why the motor cortex?

The transcriptome is a set of tens of thousands of molecules called RNAs that have a key role in the formation of proteins and, therefore, in the response to pathological processes in the body. On the other hand, the motor cortex is the region of the human brain most early affected in amyotrophic lateral sclerosis (ALS), making it especially vulnerable and key in the development and study of this disease.

Our study, in collaboration with the Barcelona Neurological Tissue Bank, entitled “Motor cortex transcriptome reveal microglial key events in amyotrophic lateral sclerosis“, has been published in the specialized journal Neurology® Neuroimmunology & Neuroinflammation.

What have we done in this study?

In this project, we have studied the transcriptome alterations of the motor cortex of ALS patients using a combination of recently developed bioinformatic techniques. From the massive characterization of the transcriptome of this region using high-throughput sequencing techniques, we have discovered a set of 124 RNA molecules that are key in this disease, most of which have functions related to neuroinflammation. Furthermore, for the first time, the study has identified a cell typein the brain of ALS patients that has a fundamental role in triggering neuroinflammatory processes and the loss of neuronal connections found in the motor cortex.

Transcriptome - ALS - Sant Pau Memory Unit - Barcelona
Microscopic image of a brain where the increase in inflammatory cells is observed (in green) in the patients (lower row) compared to healthy controls (upper row).

Relevance of the study

The set of RNA molecules identified in this study could reveal new therapeutic targets and new diagnostic markers for ALS. Furthermore, the predominant role of the new cell type discovered in this study will provide new opportunities for the development of therapeutic strategies to fight ALS, aimed at modulating its appearance and function.

More information

Motor cortex transcriptome reveals microglial key events in amyotrophic lateral sclerosis. Dols O et al. Neurology, Neuroimmunology & Neuroinflammation 2020

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