AI Article Synopsis
- Charcot-Marie-Tooth type 1B (CMT1B) is a genetic disorder caused by mutations in the MPZ gene, leading to issues with myelin in nerve cells.
- Current treatments focus mainly on supportive care, as no effective therapies exist yet, although gene therapy shows potential.
- This review highlights the disease mechanisms, preclinical models, and advancements in research, aiming to encourage further investigations for better treatment options.
Article Abstract
Charcot-Marie-Tooth type 1B (CMT1B) is a peripheral neuropathy caused by mutations in the gene encoding myelin protein zero (MPZ), a key component of the myelin sheath in Schwann cells. Mutations in the gene can lead to protein misfolding, unfolded protein response (UPR), endoplasmic reticulum (ER) stress, or protein mistrafficking. Despite significant progress in understanding the disease mechanisms, there is currently no effective treatment for CMT1B, with therapeutic strategies primarily focused on supportive care. Gene therapy represents a promising therapeutic approach for treating CMT1B. To develop a treatment and better design preclinical studies, an in-depth understanding of the pathophysiological mechanisms and animal models is essential. In this review, we present a comprehensive overview of the disease mechanisms, preclinical models, and recent advancements in therapeutic research for CMT1B, while also addressing the existing challenges in the field. This review aims to deepen the understanding of CMT1B and to encourage further research towards the development of effective treatments for CMT1B patients.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11395143 | PMC |
| http://dx.doi.org/10.3390/ijms25179227 | DOI Listing |
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