TDP-43 plasma levels are higher in amyotrophic lateral sclerosis.
SourceAmyotrophic Lateral Sclerosis and Other Motor Neuron Disorders, 13, 5, (2012), pp. 446-51
01 september 2012
Article / Letter to editor
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Laboratory of Genetic, Endocrine and Metabolic Diseases
Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders
SubjectDCN MP - Plasticity and memory; DCN NN - Brain networks and neuronal communication
Abstract Our objective was to investigate TDP-43 plasma levels in patients with amyotrophic lateral sclerosis (ALS). TDP-43 has been identified as a major component of protein inclusions in the brain of patients with ALS; mutations in the corresponding gene (TARDBP) have also been identified. Although increased TDP-43 levels have been reported in the cerebrospinal fluid, plasma levels have not yet been assessed in patients with ALS. TDP-43 levels were quantified by sandwich ELISA in plasma of 219 patients and 100 controls. In addition, we sequenced exon 6 of TARDBP, and performed longitudinal TDP-43 plasma measurements in a subset of patients. Results showed that TDP-43 plasma levels were significantly increased in patients with ALS (p = 0.023) and we found a positive correlation with age in patients and controls. Longitudinal measurements of TDP-43 plasma levels showed an increase in only one patient, with stable levels in five others. Three TARDBP variations were identified in the ALS group (1.7%), but the association with TDP-43 plasma levels was ambiguous. In conclusion, our data indicate that TDP-43 plasma levels may have potential as a marker for ALS. A genotype-phenotype relationship could not, however, be established in this cohort.
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