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Researchers from the University of Seville and the University of Pavia have identified a connection between Amyotrophic Lateral Sclerosis (ALS) and the accumulation of DNA-RNA hybrids in the genome. The accumulation of these hybrids causes increased genomic damage and boosts genetic instability. This finding will make it possible to better understand the molecular basis of this disease, and to propose new solutions to curb it.
Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disorder of the central nervous system, characterized by progressive degeneration of motor neurons resulting in muscle paralysis. Classified as a rare disease, there is no cure despite efforts to comprehend the disease’s molecular foundation and research dedicated to identifying therapies that can at least slow its development.
In the CABIMER center, the team from the University of Seville headed by Professor Andrés Aguilera, in collaboration with the team led by Dr. Cristina Cereda from the Mondino Foundation at the University of Pavia, have identified a connection between this disease and the accumulation of DNA-RNA hybrids in the genome. The researchers have discovered that patient-derived mutations in TDP-43, a protein of the RNA metabolism whose deficiency is associated with ALS, cause the accumulation of these hybrids in both neuronal and non-neuronal cells, thereby causing increased genomic damage and genetic instability.
This discovery has led to a new perception of the disease’s molecular basis related to the role of this TDP-43 protein in the cellular cytoplasm. The mutations analyzed cause a TDP-43 lack in the cell nucleus, thus leading to the accumulation of those aberrant structures in the DNA. This research opens up new avenues of exploration to understand the disease’s molecular basis, in addition to new approaches to try and slow its evolution.
The analysis conducted at CABIMER involved, among others, the pre-doctoral student Marta Giannini under the Erasmus+ programme, Aleix Bayona-Feliu under a Juan de la Cierva contract and Sonia Barroso, as part of an ERC Advanced project.
University of Seville
Giannini, M., et al. (2020) TDP-43 mutations link Amyotrophic Lateral Sclerosis with R-loop homeostasis and R loop-mediated DNA damage. PLOS Genetics. doi.org/10.1371/journal.pgen.1009260.