A new technique for the diagnosis of sporadic amyotrophic lateral sclerosis has been developed by a team of researchers from the Institute for biomedical research and innovation of the National Research Council of Catania (Cnr-Irib). The results of the study are published in the journal Cells: by taking connective tissue cells – skin fibroblasts – from patients with ALS and studying their gene expression profiles, the team has identified a “molecular signature” that makes it possible to discriminate patients with ALS sporadic – the most common form, whose development does not depend on hereditary factors – compared to individuals in the control group, supporting their use for molecular diagnosis.
ALS is a disease of the nervous system that affects motor neurons and is characterized by muscle weakness and atrophy. Despite the advances in research, the diagnosis of this pathology is often late and complex, due to the non-specific nature of the initial symptoms and the heterogeneity characterizing its etiopathogenesis.
“The development and use of diagnostic tests based on the analysis of gene expression profiles has already demonstrated clinical validity in many human pathologies, including oncological ones but, to date, their implementation in the neurological field is made difficult by the inaccessibility of the diseased tissue”, explains Sebastiano Cavallaro, research manager and head of the Genomics laboratory of the Cnr-Irib in Catania, as well as coordinator of the study.
“In the research we have observed that fibroblasts ‘memorize’ the genomic background of the patient with ALS: by measuring the level of expression of a restricted series of genes in these cells it is possible to discriminate affected patients. The results achieved could offer an additional aid for the diagnosis of this pathology, which is generally delayed compared to the onset”. Vincenzo La Bella from the University of Palermo and Francesca Luisa Conforti from the University of Calabria contributed to the study.
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