AI Article Synopsis
- - Mutations in the DNAJB6 gene are linked to limb girdle muscular dystrophy type D1 (LGMD D1), a condition that results in progressive muscle weakness and specific muscle damage characteristics.
- - Researchers created a zebrafish model with a loss of Dnajb6 to study its effects, discovering that the absence of this gene leads to late-onset muscle weakness without major autophagy or myofibril issues, but with noticeable mitochondrial damage.
- - This study highlights the connection between DNAJB6 loss and mitochondrial defects in muscle, offering insights into LGMD D1 and a potential platform for testing new treatments.
Article Abstract
Mutations in DNAJB6 are a well-established cause of limb girdle muscular dystrophy type D1 (LGMD D1). Patients with LGMD D1 develop progressive muscle weakness with histology showing fibre damage, autophagic vacuoles, and aggregates. Whilst there are many reports of LGMD D1 patients, the role of DNAJB6 in the muscle is still unclear. In this study, we developed a loss of function zebrafish model in order to investigate the role of Dnajb6. Using a double dnajb6a and dnajb6b mutant model, we show that loss of Dnajb6 leads to a late onset muscle weakness. Interestingly, we find that adult fish lacking Dnajb6 do not have autophagy or myofibril defects, however, they do show mitochondrial changes and damage. This study demonstrates that loss of Dnajb6 causes mitochondrial defects and suggests that this contributes to muscle weakness in LGMD D1. These findings expand our knowledge of the role of Dnajb6 in the muscle and provides a model to screen novel therapies for LGMD D1.
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Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11227618 | PMC |
| http://dx.doi.org/10.1093/hmg/ddae061 | DOI Listing |
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