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Article

A Shotgun Proteomic Platform for a Global Mapping of Lymphoblastoid Cells to Gain Insight into Nasu-Hakola Disease

1
Proteomics and Metabolomics Unit, Institute for Biomedical Technologies (ITB-CNR), 20054 Milan, Italy
2
Biochemistry Unit, Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy
3
Biochemistry Unit, Department of Biology and Biotechnologies “L. Spallanzani”, University of Pavia, 27100 Pavia, Italy
*
Authors to whom correspondence should be addressed.
These authors contributed equally to this work.
Academic Editor: Cristina Banfi
Int. J. Mol. Sci. 2021, 22(18), 9959; https://doi.org/10.3390/ijms22189959
Received: 3 July 2021 / Revised: 13 August 2021 / Accepted: 19 August 2021 / Published: 15 September 2021
(This article belongs to the Special Issue Mass Spectrometric Proteomics 2021)
Nasu-Hakola Disease (NHD) is a recessively inherited systemic leukodystrophy disorder characterized by a combination of frontotemporal presenile dementia and lytic bone lesions. NHD is known to be genetically related to a structural defect of TREM2 and DAP12, two genes that encode for different subunits of the membrane receptor signaling complex expressed by microglia and osteoclast cells. Because of its rarity, molecular or proteomic studies on this disorder are absent or scarce, only case reports based on neuropsychological and genetic tests being reported. In light of this, the aim of this paper is to provide evidence on the potential of a label-free proteomic platform based on the Multidimensional Protein Identification Technology (MudPIT), combined with in-house software and on-line bioinformatics tools, to characterize the protein expression trends and the most involved pathways in NHD. The application of this approach on the Lymphoblastoid cells from a family composed of individuals affected by NHD, healthy carriers and control subjects allowed for the identification of about 3000 distinct proteins within the three analyzed groups, among which proteins anomalous to each category were identified. Of note, several differentially expressed proteins were associated with neurodegenerative processes. Moreover, the protein networks highlighted some molecular pathways that may be involved in the onset or progression of this rare frontotemporal disorder. Therefore, this fully automated MudPIT platform which allowed, for the first time, the generation of the whole protein profile of Lymphoblastoid cells from Nasu-Hakola subjects, could be a valid approach for the investigation of similar neurodegenerative diseases. View Full-Text
Keywords: Nasu-Hakola Disease; frontotemporal dementia; TREM2; proteomics; MudPIT; Lymphoblastoid cells Nasu-Hakola Disease; frontotemporal dementia; TREM2; proteomics; MudPIT; Lymphoblastoid cells
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MDPI and ACS Style

De Palma, A.; Agresta, A.M.; Viglio, S.; Rossi, R.; D’Amato, M.; Di Silvestre, D.; Mauri, P.; Iadarola, P. A Shotgun Proteomic Platform for a Global Mapping of Lymphoblastoid Cells to Gain Insight into Nasu-Hakola Disease. Int. J. Mol. Sci. 2021, 22, 9959. https://doi.org/10.3390/ijms22189959

AMA Style

De Palma A, Agresta AM, Viglio S, Rossi R, D’Amato M, Di Silvestre D, Mauri P, Iadarola P. A Shotgun Proteomic Platform for a Global Mapping of Lymphoblastoid Cells to Gain Insight into Nasu-Hakola Disease. International Journal of Molecular Sciences. 2021; 22(18):9959. https://doi.org/10.3390/ijms22189959

Chicago/Turabian Style

De Palma, Antonella, Anna M. Agresta, Simona Viglio, Rossana Rossi, Maura D’Amato, Dario Di Silvestre, Pierluigi Mauri, and Paolo Iadarola. 2021. "A Shotgun Proteomic Platform for a Global Mapping of Lymphoblastoid Cells to Gain Insight into Nasu-Hakola Disease" International Journal of Molecular Sciences 22, no. 18: 9959. https://doi.org/10.3390/ijms22189959

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