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Article

Validation of the Pathogenic Effect of IGHMBP2 Gene Mutations Based on Yeast S. cerevisiae Model

1
Neuromuscular Unit, Mossakowski Medical Research Institute, Polish Academy of Sciences, 02-106 Warsaw, Poland
2
Institute of Biochemistry and Biophysics Polish Academy of Sciences, 02-106 Warsaw, Poland
*
Author to whom correspondence should be addressed.
Academic Editor: Giuseppe Novelli
Int. J. Mol. Sci. 2022, 23(17), 9913; https://doi.org/10.3390/ijms23179913
Received: 26 July 2022 / Revised: 28 August 2022 / Accepted: 29 August 2022 / Published: 31 August 2022
Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a heritable neurodegenerative disease characterized by rapid respiratory failure within the first months of life and progressive muscle weakness and wasting. Although the causative gene, IGHMBP2, is well defined, information on IGHMBP2 mutations is not always sufficient to diagnose particular patients, as the gene is highly polymorphic and the pathogenicity of many gene variants is unknown. In this study, we generated a simple yeast model to establish the significance of IGHMBP2 variants for disease development, especially those that are missense mutations. We have shown that cDNA of the human gene encodes protein which is functional in yeast cells and different pathogenic mutations affect this functionality. Furthermore, there is a correlation between the phenotype estimated in in vitro studies and our results, indicating that our model may be used to quickly and simply distinguish between pathogenic and non-pathogenic mutations identified in IGHMBP2 in patients. View Full-Text
Keywords: SMARD1; IGHMBP2 gene; missense mutations; disease model; yeast Saccharomyces cerevisiae; CMT2S SMARD1; IGHMBP2 gene; missense mutations; disease model; yeast Saccharomyces cerevisiae; CMT2S
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MDPI and ACS Style

Rzepnikowska, W.; Kaminska, J.; Kochański, A. Validation of the Pathogenic Effect of IGHMBP2 Gene Mutations Based on Yeast S. cerevisiae Model. Int. J. Mol. Sci. 2022, 23, 9913. https://doi.org/10.3390/ijms23179913

AMA Style

Rzepnikowska W, Kaminska J, Kochański A. Validation of the Pathogenic Effect of IGHMBP2 Gene Mutations Based on Yeast S. cerevisiae Model. International Journal of Molecular Sciences. 2022; 23(17):9913. https://doi.org/10.3390/ijms23179913

Chicago/Turabian Style

Rzepnikowska, Weronika, Joanna Kaminska, and Andrzej Kochański. 2022. "Validation of the Pathogenic Effect of IGHMBP2 Gene Mutations Based on Yeast S. cerevisiae Model" International Journal of Molecular Sciences 23, no. 17: 9913. https://doi.org/10.3390/ijms23179913

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