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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11515212 | PMC |
| http://dx.doi.org/10.1186/s13024-024-00768-y | DOI Listing |
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TDP-43 Cryptic RNAs in Perry Syndrome: Differences across Brain Regions and TDP-43 Proteinopathies.
Mov Disord
January 2025
Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA.
Background: Perry syndrome (PS) is a rare and fatal hereditary autosomal dominant neurodegenerative disorder caused by mutations in dynactin (DCTN1). PS brains accumulate inclusions positive for ubiquitin, transactive-response DNA-binding protein of 43 kDa (TDP-43), and to a lesser extent dynactin.
Objectives: Little is known regarding the contributions of TDP-43, an RNA binding protein that represses cryptic exon inclusion, in PS.
Loss of TDP-43 Splicing Repression Occurs in Myonuclei of Inclusion Body Myositis Patients.
Ann Neurol
January 2025
Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD.
Article Synopsis
- The study investigates inclusion body myositis (IBM), focusing on the role of TDP-43 protein and its implications in muscle pathology.
- It found that cryptic peptides linked to TDP-43 were present in 65% of muscle biopsies from IBM patients, but absent in other controls, indicating potential as a biomarker for IBM.
- The findings suggest that restoring TDP-43 function might help slow down muscle degeneration in patients with this disease.
HDGFL2 cryptic protein: a portal to detection and diagnosis in neurodegenerative disease.
Mol Neurodegener
October 2024
Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
Correction: HDGFL2 cryptic proteins report presence of TDP-43 pathology in neurodegenerative diseases.
Mol Neurodegener
July 2024
Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
HDGFL2 cryptic proteins report presence of TDP-43 pathology in neurodegenerative diseases.
Mol Neurodegener
March 2024
Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
Article Synopsis
- The letter discusses how new types of cryptic proteins produced by TDP-43 dysfunction could indicate TDP-43-related issues in neurodegenerative diseases.
- It highlights the significance of these novel proteins as potential biomarkers for diagnosing or understanding these diseases.
- The findings could lead to improved methods for detecting and studying conditions linked to TDP-43 pathology, such as ALS and frontotemporal dementia.
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