c9orf72 gene and it's HRE associated pathophysiology in ALS
Description
Chromosome 9 open reading frame 72 (c9orf72) is a 41 kb gene that contains 2 non-coding and 10 coding exons those transcribe to 3 coding variants (V1, V2, and V3) for the production of 2 proteins. With uncertain knowledge regarding the cause, the hexanucleotide repeat expansion (HRE) i.e., (GGGGCC)n in the intronic region of c9orf72 leads to the production of highly toxic repeat associated dipeptide proteins in the pathophysiology of familial Amyotrophic lateral sclerosis (ALS).
Acknowledgements
References
Balendra, R., & Isaacs, A. M. (2018). C9orf72-mediated ALS and FTD: multiple pathways to disease. Nature Reviews Neurology 2018 14:9, 14(9), 544–558. https://doi.org/10.1038/S41582-018-0047-2
Braems, E., Swinnen, B., & Van Den Bosch, L. (2020). C9orf72 loss-of-function: a trivial, stand-alone or additive mechanism in C9 ALS/FTD? Acta Neuropathologica 2020 140:5, 140(5), 625–643. https://doi.org/10.1007/S00401-020-02214-X
Feldman, E. L., Goutman, S. A., Petri, S., Mazzini, L., Savelieff, M. G., Shaw, P. J., & Sobue, G. (2022). Amyotrophic lateral sclerosis. The Lancet, 400(10360), 1363–1380. https://doi.org/10.1016/S0140-6736(22)01272-7
Smeyers, J., Banchi, E. G., & Latouche, M. (2021). C9ORF72: What It Is, What It Does, and Why It Matters. Frontiers in Cellular Neuroscience, 15, 661447. https://doi.org/10.3389/FNCEL.2021.661447/BIBTEX
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