Differential Level of Transcripts of Alpha-Synuclein in Blood of Patients with Parkinson’s Disease and Multiple System Atrophy

Lamotte, G. and Singer, W., Synucleinopathies, Handb. Clin. Neurol., 2023, vol. 196, pp. 175–202. https://doi.org/10.1016/B978-0-323-98817-9.00032-6

Article  PubMed  Google Scholar 

Fanciulli, A. and Wenning, G.K., Multiple-system atrophy, N. Engl. J. Med., 2015, vol. 372, no. 14, pp. 1375–1376. https://doi.org/10.1056/NEJMc1501657

Article  PubMed  Google Scholar 

Poewe, W., Seppi, K., Tanner, C.M., et al., Parkinson disease, Nat. Rev. Dis. Primers, 2017, vol. 3, p. 17013. https://doi.org/10.1038/nrdp.2017.13

Article  PubMed  Google Scholar 

Ahmed, Z., Asi, Y.T., Sailer, A., et al., The neuropathology, pathophysiology and genetics of multiple system atrophy, Neuropathol. Appl. Neurobiol., 2012, vol. 38, no. 1, pp. 4–24. https://doi.org/10.1111/j.1365-2990.2011.01234.x

Article  CAS  PubMed  Google Scholar 

Schweighauser, M., Shi, Y., Tarutani, A., et al., Structures of α-synuclein filaments from multiple system atrophy, Nature, 2020, vol. 585, no. 7825, pp. 464–469. https://doi.org/10.1038/s41586-020-2317-6

Article  CAS  PubMed  PubMed Central  Google Scholar 

Yang, Y., Shi, Y., Schweighauser, M., et al., Structures of α-synuclein filaments from human brains with Lewy pathology, Nature, 2022, vol. 610, no. 7933, pp. 791–795. https://doi.org/10.1038/s41586-022-05319-3

Article  CAS  PubMed  PubMed Central  Google Scholar 

Kim, S., Jeon, B.S., Heo, C., et al., Alpha-synuclein induces apoptosis by altered expression in human peripheral lymphocyte in Parkinson’s disease, FASEB J., 2004, vol. 18, no. 13, pp. 1615–1617. https://doi.org/10.1096/fj.04-1917fje

Article  CAS  PubMed  Google Scholar 

Shin, E.C., Cho, S.E., Lee, D.K., et al., Expression patterns of alpha-synuclein in human hematopoietic cells and in Drosophila at different developmental stages, Mol. Cells, 2000, vol. 10, no. 1, pp. 65–70. https://doi.org/10.1007/s10059-000-0065-x

Article  CAS  PubMed  Google Scholar 

Hashimoto, M., Yoshimoto, M., Sisk, A., et al., NACP, a synaptic protein involved in Alzheimer’s disease, is differentially regulated during megakaryocyte differentiation, Biochem. Biophys. Res. Commun., 1997, vol. 237, no. 3, pp. 611–616. https://doi.org/10.1006/bbrc.1997.6978

Article  CAS  PubMed  Google Scholar 

Li, Q.X., Campbell, B.C., McLean, C.A., et al., Platelet alpha- and gamma-synucleins in Parkinson’s disease and normal control subjects, J. Alzheimer’s Dis., 2002, vol. 4, no. 4, pp. 309–315. https://doi.org/10.3233/jad-2002-4406

Article  CAS  Google Scholar 

Barbour, R., Kling, K., Anderson, J.P., et al., Red blood cells are the major source of alpha-synuclein in blood, Neurodegener. Dis., 2008, vol. 5, no. 2, pp. 55–59. https://doi.org/10.1159/000112832

Article  CAS  PubMed  Google Scholar 

Kaur, U. and Lee, J.C., Membrane interactions of α-synuclein probed by neutrons and photons, Acc. Chem. Res., 2021, vol. 54, no. 2, pp. 302–310. https://doi.org/10.1021/acs.accounts.0c00453

Article  CAS  PubMed  PubMed Central  Google Scholar 

Pfefferkorn, C.M., Jiang, Z., and Lee, J.C., Biophysics of α-synuclein membrane interactions, Biochim. Biophys. Acta, 2012, vol. 1818, no. 2, pp. 162–171. https://doi.org/10.1016/j.bbamem.2011.07.032

Article  CAS  PubMed  Google Scholar 

Serpell, L.C., Berriman, J., Jakes, R., et al., Fiber diffraction of synthetic alpha-synuclein filaments shows amyloid-like cross-beta conformation, Proc. Natl. Acad. Sci. U. S. A., 2000, vol. 97, no. 9, pp. 4897–4902. https://doi.org/10.1073/pnas.97.9.4897

Article  CAS  PubMed  PubMed Central  Google Scholar 

Conway, K.A., Harper, J.D., and Lansbury, P.T., Accelerated in vitro fibril formation by a mutant alpha-synuclein linked to early-onset Parkinson disease, Nat. Med., 1998, vol. 4, no. 11, pp. 1318–1320. https://doi.org/10.1038/3311

Article  CAS  PubMed  Google Scholar 

Greenbaum, E.A., Graves, C.L., Mishizen-Eberz, A.J., et al., The E46K mutation in alpha-synuclein increases amyloid fibril formation, J. Biol. Chem., 2005, vol. 280, no. 9, pp. 7800–7807. https://doi.org/10.1074/jbc.M411638200

Article  CAS  PubMed  Google Scholar 

Ghosh, D., Mondal, M., Mohite, G.M., et al., The Parkinson’s disease-associated H50Q mutation accelerates α-synuclein aggregation in vitro, Biochemistry, 2013, vol. 52, no. 40, pp. 6925–6927. https://doi.org/10.1021/bi400999d

Article  CAS  PubMed  Google Scholar 

Mokretar, K., Pease, D., Taanman, J.W., et al., Somatic copy number gains of α-synuclein (SNCA) in Parkinson’s disease and multiple system atrophy brains, Brain, 2018, vol. 141, no. 8, pp. 2419–2431. https://doi.org/10.1093/brain/awy157

Article  PubMed  Google Scholar 

Gámez-Valero, A. and Beyer, K., Alternative splicing of alpha- and beta-synuclein genes plays differential roles in synucleinopathies, Genes (Basel), 2018, vol. 9, no. 2, p. 63. https://doi.org/10.3390/genes9020063

Article  CAS  PubMed  PubMed Central  Google Scholar 

SanGiovanni, D.Q., McGlinchey, R.P., and Lee, J.C., Amyloid formation of alternatively spliced variants of α-synuclein, Protein Sci., 2025, vol. 34, no. 7, p. 70195. https://doi.org/10.1002/pro.70195

Article  CAS  Google Scholar 

Huang, F., Yan, J., Xu, H., et al., Exploring the impact of physiological C-terminal truncation on α-synuclein conformations to unveil mechanisms regulating pathological aggregation, J. Chem. Inf. Model., 2024, vol. 64, no. 22, pp. 8616–8627. https://doi.org/10.1021/acs.jcim.4c01839

Article  CAS  PubMed  PubMed Central  Google Scholar 

Kim, A., Martinez-Valbuena, I., Danics, K., et al., Contribution of α-synuclein cytopathologies to distinct seeding of misfolded α-synuclein, Brain Pathol., 2025, vol. 35, no. 6, p. e70024. https://doi.org/10.1111/bpa.70024

Article  CAS  PubMed  PubMed Central  Google Scholar 

Postuma, R.B., Berg, D., Stern, M., et al., MDS clinical diagnostic criteria for Parkinson’s disease, Mov. Disord., 2015, vol. 30, no. 12, pp. 1591–1601. https://doi.org/10.1002/mds.26424

Article  PubMed  Google Scholar 

Wenning, G.K., Stankovic, I., Vignatelli, L., et al., The movement disorder society criteria for the diagnosis of multiple system atrophy, Mov. Disord., 2022, vol. 37, no. 6, pp. 1131–1148. https://doi.org/10.1002/mds.29005

Article  PubMed  PubMed Central  Google Scholar 

Hoehn, M.M. and Yahr, M.D., Parkinsonism: onset, progression and mortality, Neurology, 1967, vol. 17, no. 5, pp. 427–442. https://doi.org/10.1212/wnl.17.5.427

Article  CAS  PubMed  Google Scholar 

Livak, K.J. and Schmittgen, T.D., Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) method, Methods, 2001, vol. 25, no. 4, pp. 402–408. https://doi.org/10.1006/meth.2001.1262

Article  CAS  PubMed  Google Scholar 

Xia, Y., Saitoh, T., Ueda, K., et al., Characterization of the human alpha-synuclein gene: genomic structure, transcription start site, promoter region and polymorphisms, J. Alzheimer’s Dis., 2001, vol. 3, no. 5, pp. 485–494. https://doi.org/10.3233/jad-2001-3508

Article  Google Scholar 

Bungeroth, M., Appenzeller, S., Regulin, A., et al., Differential aggregation properties of alpha-synuclein isoforms, Neurobiol. Aging, 2014, vol. 35, no. 8, pp. 1913–1919. https://doi.org/10.1016/j.neurobiolaging.2014.02.009

Article  CAS  PubMed  Google Scholar 

Röntgen, A., Toprakcioglu, Z., Tomkins, J.E., and Vendruscolo, M., Modulation of α-synuclein in vitro aggregation kinetics by its alternative splice isoforms, Proc. Natl. Acad. Sci. U. S. A., 2024, vol. 121, no. 7, p. 2313465121. https://doi.org/10.1073/pnas.2313465121

Article 

Comments (0)

No login
gif