This scientific commentary refers to ‘Induced pluripotent stem cell-derived motor neurons of CMT type 2 patients reveal progressive mitochondrial dysfunction’, by Van Lent (doi:10.1093/brain/awab226).
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8418343 | PMC |
http://dx.doi.org/10.1093/brain/awab278 | DOI Listing |
Brain Dev
December 2024
Department of Medical Genetics Medical Faculty, Aksaray University, Aksaray, Turkiye.
Background: Spinal muscular atrophy with respiratory distress type 1 (SMARD1) and Charcot-Marie-Tooth type 2S (CMT2S) typically present before age 10. Genetic factors account for up to 50 % of neuropathies, which often display varied symptoms. Mutations in the IGHMBP2 gene are associated with both CMT2S and SMARD1, resulting in a rare clinical condition marked by axonal neuropathy, spinal muscular atrophy, respiratory distress, and muscle weakness.
View Article and Find Full Text PDFAutophagy
December 2024
Peripheral Neuropathy Research Group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.
HSPB1 [heat shock protein family B (small) member 1] and HSPB8 are essential molecular chaperones for neuronal proteostasis, as they prevent protein aggregation. Mutant HSPB1 and HSPB8 primarily harm peripheral neurons, resulting in axonal Charcot-Marie-Tooth neuropathies (CMT2). Macroautophagy/autophagy is a shared mechanism by which HSPB1 and HSPB8 mutations cause neuronal dysfunction.
View Article and Find Full Text PDFAdv Sci (Weinh)
December 2024
Department of Molecular Medicine, University of Padova, Via U. Bassi 58/B, Padova, 35131, Italy.
The core component of the class III phosphatidylinositol 3-kinase complex, Beclin 1, takes part in different protein networks, thus switching its role from inducing autophagy to regulating autophagosomal maturation and endosomal trafficking. While assessed in neurons, astrocytes, and microglia, its role is far less investigated in myelinating glia, including Schwann cells (SCs), responsible for peripheral nerve myelination. Remarkably, the dysregulation in endosomal trafficking is emerging as a pathophysiological mechanism underlying peripheral neuropathies, such as demyelinating Charcot-Marie-Tooth (CMT) diseases.
View Article and Find Full Text PDFAnn Clin Transl Neurol
December 2024
NextGen Precision Health, University of Missouri, Columbia, Missouri, USA.
Genet Med Open
March 2024
Medical Genetics Division, Department of Pediatrics, CHU Sainte-Justine, Montreal, QC, Canada.
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