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


ABSTRACT: 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?

SUBMITTER: Conti E 

PROVIDER: S-EPMC7820419 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature

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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  ...[more]

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