A novel splice site FUS mutation in a familial ALS case: effects on protein expression
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, ISSN: 2167-9223, Vol: 23, Issue: 1-2, Page: 128-136
2022
- 2Citations
- 8Captures
- 1Mentions
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- Citations2
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- Captures8
- Readers8
- Mentions1
- News Mentions1
- News1
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A novel splice site FUS mutation in a familial ALS case: effects on protein expression.
Amyotroph Lateral Scler Frontotemporal Degener. 2021 Apr 21;:1-9. Authors: Canosa A, Lomartire A, De Marco G, Grassano M, Brunetti M, Manera U, Vasta R, Salamone P, Fuda G, Sbaiz L, Gallone S, Moglia C, Calvo A, Chiò A PubMed: 33879000 Submit Comment
Article Description
Objective: To investigate the impact of a novel heterozygous FUS mutation in the acceptor splice site of intron 14 (c.1542 − 1 g > t) on protein expression in Peripheral Blood Mononuclear Cells (PBMC) from a familial ALS patient. Methods: PBMC were isolated for mRNA analysis (cDNA synthesis, sequencing and one-step RT-PCR), Western Immunoblot (WI), and Immunofluorescence (IF). Results: cDNA analysis revealed the skipping of exon 15 and a premature stop codon at c.228. RT-PCR showed reduced FUS mRNA by more than half compared to a healthy control (HC) and an ALS patient without genetic mutations (wtALS). In WI FUS band intensity in the proband was 30–50% compared to HC and wtALS. An antibody expected to detect only the wild-type protein did not reveal any reduction of FUS band intensity compared to the other antibodies. IF showed no difference among HC, wtALS, and the proband. Discussion: The reduction of FUS mRNA and protein in PBMC suggests the absence of the truncated protein, probably due to nonsense-mediated decay, leading to loss of function.
Bibliographic Details
http://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&scp=85104704899&origin=inward; http://dx.doi.org/10.1080/21678421.2021.1909065; http://www.ncbi.nlm.nih.gov/pubmed/33879000; https://www.tandfonline.com/doi/full/10.1080/21678421.2021.1909065; https://dx.doi.org/10.1080/21678421.2021.1909065
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