SUMMARY:
Recent evidence strongly indicates that a disbalance in proteostasis plays an important role in several forms of CMT1.
TITLE:
Proteostasis plays an important role in demyelinating Charcot Marie Tooth disease
DESCRIPTION:
Type 1 Charcot-Marie-Tooth disease (CMT1) is the most common demyelinating peripheral neuropathy. Patients suffer from progressive muscle weakness and sensory problems. The underlying disease mechanisms of CMT1 are still unclear and no therapy is currently available, hence patients completely rely on supportive care. Balancing protein levels is a complex multistep process fundamental to maintain cells in their healthy state and a disrupted proteostasis is a hallmark of several neurodegenerative…
CONTENT:
Biochem Pharmacol. 2023 Aug 19:115760. doi: 10.1016/j.bcp.2023.115760. Online ahead of print.
ABSTRACT
Type 1 Charcot-Marie-Tooth disease (CMT1) is the most common demyelinating peripheral neuropathy. Patients suffer from progressive muscle weakness and sensory problems. The underlying disease mechanisms of CMT1 are still unclear and no therapy is currently available, hence patients completely rely on supportive care. Balancing protein levels is a complex multistep process fundamental to maintain cells in their healthy state and a disrupted proteostasis is a hallmark of several neurodegenerative diseases. When protein misfolding occurs, protein quality control systems are activated such as chaperones, the lysosomal-autophagy system and proteasomal degradation to ensure proper degradation. However, in pathological circumstances, these mechanisms are overloaded and thereby become inefficient to clear the load of misfolded proteins. Recent evidence strongly indicates that a disbalance in proteostasis plays an important role in several forms of CMT1. In this review, we present an overview of the protein quality control systems, their role in CMT1, and potential treatment strategies to restore proteostasis.
PMID:37604292 | DOI:10.1016/j.bcp.2023.115760
SOURCE:
Biochemical pharmacology
TAGS:
CMT1
CATEGORY:
Research
SUBCATEGORY:
n/a
DATE – PUBLISHED:
2023-08-19T21:04:21Z
DATE – DOI: 2023-08-19T21:04:21Z
DATE – PUBMED: 2023 Aug 19
DATE OUTPUT MATCHED: True
DATE – ADDED:
Mon, 21 Aug 2023 06:00:00 -0400
DATE – RETRIEVED:
08/22/23 12:38AM
2023-08-22T00:38:01-04:00
FEATURED IMAGE:
Media Uploaded (image/png)
IDENTIFIER:
pmid:37604292,doi:10.1016/j.bcp.2023.115760
PUBMED ID:
pubmed:37604292
DOI:
10.1016/j.bcp.2023.115760
LINK – PUBMED:
https://pubmed.ncbi.nlm.nih.gov/37604292/
LINK – DOI:
https://doi.org/10.1016/j.bcp.2023.115760
LINK – PUBLISHER:
https://linkinghub.elsevier.com/retrieve/pii/S0006295223003519
REFERENCES:
CMT Treatment Report, Urgent Research, 2023-08-22T00:38:01-04:00, https://www.cmttreatmentreport.com.
