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Serum naturally occurring anti-TDP-43 auto-antibodies are increased in amyotrophic lateral sclerosis

Amyotrophic Lateral Sclerosis (ALS) patients express significant clinical heterogeneity that often hinders a correct diagnostic definition. Intracellular deposition of TDP-43, a protein involved in RNA metabolism characterizes the pathology. Interestingly, this protein can be detected in serum, wher...

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Published in:Scientific reports 2021-01, Vol.11 (1), p.1978-1978, Article 1978
Main Authors: Conti, Elisa, Sala, Gessica, Diamanti, Susanna, Casati, Marco, Lunetta, Christian, Gerardi, Francesca, Tarlarini, Claudia, Mosca, Lorena, Riva, Nilo, Falzone, Yuri, Filippi, Massimo, Appollonio, Ildebrando, Ferrarese, Carlo, Tremolizzo, Lucio
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Language:English
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Summary:Amyotrophic Lateral Sclerosis (ALS) patients express significant clinical heterogeneity that often hinders a correct diagnostic definition. Intracellular deposition of TDP-43, a protein involved in RNA metabolism characterizes the pathology. Interestingly, this protein can be detected in serum, wherein cognate naturally-occurring auto-antibodies (anti-TDP-43 NAb) might be also present, albeit they have never been documented before. In this exploratory study, we quantified the levels of both anti-TDP-43 NAb and TDP-43 protein as putative accessible markers for improving the ALS diagnostic process by using ELISA in N  = 70 ALS patients ( N  = 4 carrying TARDBP mutations), N  = 40 age-comparable healthy controls (CTRL), N  = 20 motor neuron disease mimics (MN-m), N  = 20 Alzheimer’s disease (AD) and N  = 15 frontotemporal lobar degeneration (FTLD) patients. Anti-TDP-43 NAb were found to be significantly increased in ALS patients compared to all the other groups ( p  
ISSN:2045-2322
2045-2322
DOI:10.1038/s41598-021-81599-5