![[feed]](/style/images/feed-icon-14x14.png){kind=icon}
Tools
Tools
| Item Type: | Article |
|---|---|
| Title: | FHL1B Interacts with lamin A/C and emerin at the nuclear lamina and is misregulated in Emery-Dreifuss Muscular Dystrophy |
| Creators Name: | Ziat, E., Mamchaoui, K., Beuvin, M., Nelson, I., Azibani, F., Spuler, S., Bonne, G. and Bertrand, A.T. |
| Abstract: | BACKGROUND: Emery-Dreifuss muscular dystrophy (EDMD) is associated with mutations in EMD and LMNA genes, encoding for the nuclear envelope proteins emerin and lamin A/C, indicating that EDMD is a nuclear envelope disease. We recently reported mutations in FHL1 gene in X-linked EDMD. FHL1 encodes FHL1A, and the two minor isoforms FHL1B and FHL1C. So far, none have been described at the nuclear envelope. OBJECTIVE: To gain insight into the pathophysiology of EDMD, we focused our attention on the poorly characterized FHL1B isoform. METHODS: The amount and the localisation of FHL1B were evaluated in control and diseased human primary myoblasts using immunofluorescence and western blotting. RESULTS: We found that in addition to a cytoplasmic localization, this isoform strongly accumulated at the nuclear envelope of primary human myoblasts, like but independently of lamin A/C and emerin. During myoblast differentiation, we observed a major reduction of FHL1B protein expression, especially in the nucleus. Interestingly, we found elevated FHL1B expression level in myoblasts from an FHL1-related EDMD patient where the FHL1 mutation only affects FHL1A, as well as in myoblasts from an LMNA-related EDMD patient. CONCLUSIONS: Altogether, the specific localization of FHL1B and its modulation in disease-patient's myoblasts confirmed FHL1-related EDMD as a nuclear envelope disease. |
| Keywords: | FHL1B, Emerin, Lamin A/C, Nuclear Envelope, Emery-Dreifuss Muscular Dystrophy |
| Source: | Journal of Neuromuscular Diseases |
| ISSN: | 2214-3599 |
| Publisher: | IOS Press |
| Volume: | 3 |
| Number: | 4 |
| Page Range: | 497-510 |
| Date: | 29 November 2016 |
| Official Publication: | https://doi.org/10.3233/JND-160169 |
| PubMed: | View item in PubMed |
Repository Staff Only: item control page
