SUMMARY:
Tinnitus might negatively affect emotional wellbeing and cognitive capacities in older people.
TITLE:
CMT1A current gene therapy approaches and promising biomarkers
DESCRIPTION:
Charcot-Marie-Tooth neuropathies (CMT) constitute a group of common but highly heterogeneous, non-syndromic genetic disorders affecting predominantly the peripheral nervous system. CMT type 1A (CMT1A) is the most frequent type and accounts for almost ~50% of all diagnosed CMT cases. CMT1A results from the duplication of the peripheral myelin protein 22 (PMP22) gene. Overexpression of PMP22 protein overloads the protein folding apparatus in Schwann cells and activates the unfolded protein…
CONTENT:
Neural Regen Res. 2023 Jul;18(7):1434-1440. doi: 10.4103/1673-5374.361538.
ABSTRACT
Charcot-Marie-Tooth neuropathies (CMT) constitute a group of common but highly heterogeneous, non-syndromic genetic disorders affecting predominantly the peripheral nervous system. CMT type 1A (CMT1A) is the most frequent type and accounts for almost ~50% of all diagnosed CMT cases. CMT1A results from the duplication of the peripheral myelin protein 22 (PMP22) gene. Overexpression of PMP22 protein overloads the protein folding apparatus in Schwann cells and activates the unfolded protein response. This leads to Schwann cell apoptosis, dys- and de- myelination and secondary axonal degeneration, ultimately causing neurological disabilities. During the last decades, several different gene therapies have been developed to treat CMT1A. Almost all of them remain at the pre-clinical stage using CMT1A animal models overexpressing PMP22. The therapeutic goal is to achieve gene silencing, directly or indirectly, thereby reversing the CMT1A genetic mechanism allowing the recovery of myelination and prevention of axonal loss. As promising treatments are rapidly emerging, treatment-responsive and clinically relevant biomarkers are becoming necessary. These biomarkers and sensitive clinical evaluation tools will facilitate the design and successful completion of future clinical trials for CMT1A.
PMID:36571339 | DOI:10.4103/1673-5374.361538
SOURCE:
Neural regeneration research
TAGS:
Tinnitus
CATEGORY:
Research
SUBCATEGORY:
n/a
DATE – PUBLISHED:
2022-12-22T13:09:17Z
DATE – DOI: 2022-12-22T13:09:17Z
DATE – PUBMED:
DATE OUTPUT MATCHED: False
DATE – ADDED:
Mon, 26 Dec 2022 06:00:00 -0500
DATE – RETRIEVED:
12/26/22 12:57PM
2022-12-26T12:57:51-05:00
FEATURED IMAGE:
Media Uploaded (image/png)
IDENTIFIER:
pmid:36571339,doi:10.4103/1673-5374.361538
PUBMED ID:
pubmed:36571339
DOI:
10.4103/1673-5374.361538
LINK – PUBMED:
https://pubmed.ncbi.nlm.nih.gov/36571339/
LINK – DOI:
https://doi.org/10.4103/1673-5374.361538
LINK – PUBLISHER:
https://journals.lww.com/10.4103/1673-5374.361538
REFERENCES:
CMT Treatment Report, Urgent Research, 2022-12-26T12:57:51-05:00, https://www.cmttreatmentreport.com.