Reißig J, Cunningham S, Wandersee A, Brox R, Achenbach S, Strobel J, Hackstein H, Schneider S (2024)
Publication Type: Journal article, Original article
Publication year: 2024
Book Volume: 70
Pages Range: 525-532
Journal Issue: 3
DOI: 10.7754/Clin.Lab.2023.230906
BACKGROUND: The recently identified PROS1 mutation Protein S Erlangen c.1904T>C, resulting in amino acid exchange F635S, is associated with severe quantitative protein S (PS) deficiency and clinical thrombosis. It was hypothesized that this deficiency is due to a secretion defect [1]. This report aims to further elucidate the potential secretion defect of PS Erlangen. METHODS: Coding sequences (CDS) of wild type (WT) PROS1 (encoding PS) and mutated PROS1c.1904T>C (encoding PSF635S) were cloned in front of the CDS of green fluorescent protein (GFP), and the respective plasmids were introduced into HEK293T cells. PROS1-GFP and PROS1c.1904T>C-GFP expressing HEK293T cell lines were analyzed by confocal laser scanning microscopy and western blot for cellular proteins and proteins secreted to the growth medium. RESULTS: Western blot analysis revealed a significantly reduced secretion of PSF635S compared to WT PS. This observation was confirmed by the detection of mutant PSF635S-GFP fusion exclusively in the endoplasmic reticulum (ER), while PS-GFP passed through the entire secretory pathway, as indicated by the localization within both the ER and Golgi apparatus. CONCLUSIONS: The Protein S Erlangen mutation results in type I PS deficiency caused by a secretion defect.
APA:
Reißig, J., Cunningham, S., Wandersee, A., Brox, R., Achenbach, S., Strobel, J.,... Schneider, S. (2024). The Protein S Erlangen Mutation PROS1c.1904T>C (F635S) Suppresses Secretion. Clinical Laboratory, 70(3), 525-532. https://doi.org/10.7754/Clin.Lab.2023.230906
MLA:
Reißig, Julian, et al. "The Protein S Erlangen Mutation PROS1c.1904T>C (F635S) Suppresses Secretion." Clinical Laboratory 70.3 (2024): 525-532.
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