Extracellular vesicles in TDP-43 proteinopathies: pathogenesis and biomarker potential

Tollervey JR, Curk T, Rogelj B, Briese M, Cereda M, Kayikci M, et al. Characterizing the RNA targets and position-dependent splicing regulation by TDP-43. Nat Neurosci. 2011;14:452–8.

Article  CAS  PubMed  PubMed Central  Google Scholar 

McDonald KK, Aulas A, Destroismaisons L, Pickles S, Beleac E, Camu W, et al. TAR DNA-binding protein 43 (TDP-43) regulates stress granule dynamics via differential regulation of G3BP and TIA-1. Hum Mol Genet. 2011;20:1400–10.

Article  CAS  PubMed  Google Scholar 

Josephs KA, Hodges JR, Snowden JS, MacKenzie IR, Neumann M, Mann DM, et al. Neuropathological background of phenotypical variability in frontotemporal dementia. Acta Neuropathol. 2011;122:137–53.

Article  PubMed  PubMed Central  Google Scholar 

Neumann M, Sampathu DM, Kwong LK, Truax AC, Micsenyi MC, Chou TT, et al. Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science. 2006;314:130–3.

Article  CAS  PubMed  Google Scholar 

Nelson PT, Dickson DW, Trojanowski JQ, Jack CR, Boyle PA, Arfanakis K, et al. Limbic-predominant age-related TDP-43 encephalopathy (LATE): consensus working group report. Brain. 2019;142:1503–27.

Article  PubMed  PubMed Central  Google Scholar 

Woodworth DC, Nguyen KM, Sordo L, Scambray KA, Head E, Kawas CH, et al. Comprehensive assessment of TDP-43 neuropathology data in the National Alzheimer’s Coordinating Center database. Acta Neuropathol. 2024;147:103.

Article  Google Scholar 

Josephs KA, Whitwell JL, Tosakulwong N, Weigand SD, Murray ME, Liesinger AM, et al. TAR DNA-binding protein 43 and pathological subtype of Alzheimer’s disease impact clinical features. Ann Neurol. 2015;78:697–709.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Cortese A, Plagnol V, Brady S, Simone R, Lashley T, Acevedo-Arozena A, et al. Widespread RNA metabolism impairment in sporadic inclusion body myositis TDP43-proteinopathy. Neurobiol Aging. 2014;35:1491–8.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Wider C, Dickson DW, Stoessl AJ, Tsuboi Y, Chapon F, Gutmann L, et al. Pallidonigral TDP-43 pathology in Perry syndrome. Parkinsonism Relat Disord. 2009;15:281–6.

Article  PubMed  Google Scholar 

van Es MA, Hardiman O, Chio A, Al-Chalabi A, Pasterkamp RJ, Veldink JH, et al. Amyotrophic lateral sclerosis. Lancet. 2017;390:2084–98.

Article  PubMed  Google Scholar 

Zou Z-Y, Zhou Z-R, Che C-H, Liu C-Y, He R-L, Huang H-P. Genetic epidemiology of amyotrophic lateral sclerosis: a systematic review and meta-analysis. J Neurol Neurosurg Psychiatry. 2017;88:540–9.

Article  PubMed  Google Scholar 

Mackenzie IRA. The neuropathology and clinical phenotype of FTD with progranulin mutations. Acta Neuropathol. 2007;114:49–54.

Article  PubMed  Google Scholar 

Baker M, Mackenzie IR, Pickering-Brown SM, Gass J, Rademakers R, Lindholm C, et al. Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. Nature. 2006;442:916–9.

Article  CAS  PubMed  Google Scholar 

Chen-Plotkin AS, Xiao J, Geser F, Martinez-Lage M, Grossman M, Unger T, et al. Brain progranulin expression in GRN-associated frontotemporal lobar degeneration. Acta Neuropathol. 2010;119:111–22.

Article  CAS  PubMed  Google Scholar 

Feneberg E, Gray E, Ansorge O, Talbot K, Turner MR. Towards a TDP-43-Based biomarker for ALS and FTLD. Mol Neurobiol. 2018;55:7789–801.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Johnson BS, Snead D, Lee JJ, McCaffery JM, Shorter J, Gitler AD. TDP-43 is intrinsically aggregation-prone, and amyotrophic lateral sclerosis-linked mutations accelerate aggregation and increase toxicity. J Biol Chem. 2009;284:20329–39.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Vanden Broeck L, Callaerts P, Dermaut B. TDP-43-mediated neurodegeneration: towards a loss-of-function hypothesis? Trends Mol Med. 2014;20:66–71.

Article  CAS  PubMed  Google Scholar 

Mehta PR, Brown AL, Ward ME, Fratta P. The era of cryptic exons: implications for ALS-FTD. Mol Neurodegener. 2023;18:16.

Article  Google Scholar 

Thompson AG, Gray E, Heman-Ackah SM, Mäger I, Talbot K, Andaloussi S, El, et al. Extracellular vesicles in neurodegenerative disease - pathogenesis to biomarkers. Nat Rev Neurol. 2016;12:346–57.

Harding C, Heuser J, Stahl P. Endocytosis and intracellular processing of transferrin and colloidal gold-transferrin in rat reticulocytes: demonstration of a pathway for receptor shedding. Eur J Cell Biol. 1984;35:256–63.

CAS  PubMed  Google Scholar 

Dellar ER, Hill C, Melling GE, Carter DRF, Baena-Lopez LA. Unpacking extracellular vesicles: RNA cargo loading and function. J Extracell Biology. 2022;1:e40.

Article  CAS  Google Scholar 

Iguchi Y, Eid L, Parent M, Soucy G, Bareil C, Riku Y, et al. Exosome secretion is a key pathway for clearance of pathological TDP-43. Brain. 2016;139:3187–201.

Article  PubMed  PubMed Central  Google Scholar 

Howitt J, Hill AF. Exosomes in the pathology of neurodegenerative diseases. J Biol Chem. 2016;291:26589–97.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Chatterjee M, Özdemir S, Fritz C, Möbius W, Kleineidam L, Mandelkow E, et al. Plasma extracellular vesicle Tau and TDP-43 as diagnostic biomarkers in FTD and ALS. Nat Med. 2024;30:1771–83.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Ding X, Ma M, Teng J, Teng RKF, Zhou S, Yin J, et al. Exposure to ALS-FTD-CSF generates TDP-43 aggregates in glioblastoma cells through exosomes and TNTs-like structure. Oncotarget. 2015;6:24178–91.

Article  PubMed  PubMed Central  Google Scholar 

Gilboa T, Ter-Ovanesyan D, Wang S-C, Whiteman S, Kannarkat GT, Church GM, et al. Measurement of α-synuclein as protein cargo in plasma extracellular vesicles. Proc Natl Acad Sci U S A. 2024;121:e2408949121.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Brás IC, Khani MH, Vasili E, Möbius W, Riedel D, Parfentev I, et al. Molecular mechanisms mediating the transfer of disease-associated proteins and effects on neuronal activity. J Parkinsons Dis. 2022;12:2397–422.

Article  PubMed  Google Scholar 

Gustafsson G, Lööv C, Persson E, Lázaro DF, Takeda S, Bergström J, et al. Secretion and uptake of α-Synuclein via extracellular vesicles in cultured cells. Cell Mol Neurobiol. 2018;38:1539–50.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Welsh JA, Goberdhan DCI, O’Driscoll L, Buzas EI, Blenkiron C, Bussolati B, et al. Minimal information for studies of extracellular vesicles (MISEV2023): from basic to advanced approaches. J Extracell Vesicles. 2024;13:e12404.

Article  PubMed  PubMed Central  Google Scholar 

Prasad A, Sivalingam V, Bharathi V, Girdhar A, Patel BK. The amyloidogenicity of a C-terminal region of TDP-43 implicated in amyotrophic lateral sclerosis can be affected by anions, acetylation and homodimerization. Biochimie. 2018;150:76–87.

Article  CAS  PubMed  Google Scholar 

Fang Y-S, Tsai K-J, Chang Y-J, Kao P, Woods R, Kuo P-H, et al. Full-length TDP-43 forms toxic amyloid oligomers that are present in frontotemporal lobar dementia-TDP patients. Nat Commun. 2014;5:4824.

Article  CAS  PubMed  Google Scholar 

Vallejo MC, Sarkar S, Elliott EC, Henry HR, Powell SM, Diaz Ludovico I, et al. A proteomic meta-analysis refinement of plasma extracellular vesicles. Sci Data. 2023;10:837.

Comments (0)

No login
gif