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Article

TDP-43 Cytoplasmic Translocation in the Skin Fibroblasts of ALS Patients

1
Neuromuscular Unit, Department of Neurology, Hospital del Mar, 08003 Barcelona, Spain
2
Department of Cell Biology, Physiology and Immunology, Institute of Neurosciences and CIBERNED, Universitat Autònoma de Barcelona, 08193 Bellaterra, Spain
3
Neuro-Oncology Unit, Department of Neurology, Hospital Universitari de Bellvitge-ICO and IDIBELL, 08907 L’Hospitalet, Spain
4
Department of Neurology, Hospital Universitari de Bellvitge, 08907 L’Hospitalet, Spain
*
Author to whom correspondence should be addressed.
Academic Editor: Giuseppe Marangi
Cells 2022, 11(2), 209; https://doi.org/10.3390/cells11020209
Received: 3 December 2021 / Revised: 23 December 2021 / Accepted: 4 January 2022 / Published: 8 January 2022
(This article belongs to the Section Cellular Pathology)
Diagnosis of ALS is based on clinical symptoms when motoneuron degeneration is significant. Therefore, new approaches for early diagnosis are needed. We aimed to assess if alterations in appearance and cellular localization of cutaneous TDP-43 may represent a biomarker for ALS. Skin biopsies from 64 subjects were analyzed: 44 ALS patients, 10 healthy controls (HC) and 10 neurological controls (NC) (Parkinson’s disease and multiple sclerosis). TDP-43 immunoreactivity in epidermis and dermis was analyzed, as well as the percentage of cells with TDP-43 cytoplasmic localization. We detected a higher amount of TDP-43 in epidermis (p < 0.001) and in both layers of dermis (p < 0.001), as well as a higher percentage of TDP-43 cytoplasmic positive cells (p < 0.001) in the ALS group compared to HC and NC groups. Dermal cells containing TDP-43 were fibroblasts as identified by co-labeling against vimentin. ROC analyses (AUC 0.867, p < 0.001; CI 95% 0.800–0.935) showed that detection of 24.1% cells with cytoplasmic TDP-43 positivity in the dermis had 85% sensitivity and 80% specificity for detecting ALS. We have identified significantly increased TDP-43 levels in epidermis and in the cytoplasm of dermal cells of ALS patients. Our findings provide support for the use of TDP-43 in skin biopsies as a potential biomarker. View Full-Text
Keywords: amyotrophic lateral sclerosis; dermis; skin biopsy; TDP-43; biomarker amyotrophic lateral sclerosis; dermis; skin biopsy; TDP-43; biomarker
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MDPI and ACS Style

Rubio, M.A.; Herrando-Grabulosa, M.; Velasco, R.; Blasco, I.; Povedano, M.; Navarro, X. TDP-43 Cytoplasmic Translocation in the Skin Fibroblasts of ALS Patients. Cells 2022, 11, 209. https://doi.org/10.3390/cells11020209

AMA Style

Rubio MA, Herrando-Grabulosa M, Velasco R, Blasco I, Povedano M, Navarro X. TDP-43 Cytoplasmic Translocation in the Skin Fibroblasts of ALS Patients. Cells. 2022; 11(2):209. https://doi.org/10.3390/cells11020209

Chicago/Turabian Style

Rubio, Miguel A., Mireia Herrando-Grabulosa, Roser Velasco, Israel Blasco, Monica Povedano, and Xavier Navarro. 2022. "TDP-43 Cytoplasmic Translocation in the Skin Fibroblasts of ALS Patients" Cells 11, no. 2: 209. https://doi.org/10.3390/cells11020209

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