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Seipin Deficiency Impairs Motor Coordination in Mice by Compromising Spinal Cord Myelination.
Neuromolecular Med
January 2025
Department of Anatomy, School of Basic Medical Sciences, Shanxi Medical University, No 56, Xinjian Nan Road, Taiyuan, 030001, Shanxi, China.
The integrity of the myelin sheath of the spinal cord (SC) is essential for motor coordination. Seipin is an endoplasmic reticulum transmembrane protein highly expressed in adipose tissue and motor neurons in the SC. It was reported Seipin deficiency induced lipid dysregulation and neurobehavioral deficits, but the underlying mechanism, especially in SC, remains to be elucidated.
View Article and Find Full Text PDFHypomyelinating Leukodystrophy 14 (HLD14)-Related UFC1 p.Arg23Gln Decreases Cell Morphogenesis: A Phenotype Reversable with Hesperetin.
Medicines (Basel)
January 2025
Laboratory of Molecular Neurology, Tokyo University of Pharmacy and Life Sciences, Tokyo 192-0392, Japan.
Introduction: In the central nervous system (CNS), proper interaction between neuronal and glial cells is crucial for the development of mature nervous tissue. Hypomyelinating leukodystrophies (HLDs) are a group of genetic CNS disorders characterized by hypomyelination and/or demyelination. In these conditions, genetic mutations disrupt the biological functions of oligodendroglial cells, which are responsible for wrapping neuronal axons with myelin sheaths.
View Article and Find Full Text PDFRepeated sevoflurane exposure causes hypomyelination in the prefrontal cortex of adult male mice.
Sci Rep
January 2025
Department of Anesthesiology, Affiliated Hospital of Zunyi Medical University, Zunyi, 563000, China.
As one of the most commonly used general anesthetics (GAs) in surgery, numerous studies have demonstrated the detrimental effects of sevoflurane exposure on myelination in the developing and elderly brain. However, the impact of sevoflurane exposure on intact myelin structure in the adult brain is barely discovered. Here, we show that repeated sevoflurane exposure, but not single exposure, causes hypomyelination and abnormal ultrastructure of myelin sheath in the prefrontal cortex (PFC) of adult male mice, which is considered as a critical brain region for general anesthesia mediated consciousness change.
View Article and Find Full Text PDFNovel gene variant identified in congenital hypomyelinating neuropathy-3: A case report.
SAGE Open Med Case Rep
November 2024
University of California, San Diego, La Jolla, CA, USA.
Contactin-associated protein () gene mutations have been reported in cases of congenital hypomyelinating neuropathy (CHN), a rare hereditary neuropathy. We present a case of a term male infant born at 39 weeks 4 days with respiratory distress, impaired swallow function, and hypotonia. Neurological workup for structural, autoimmune, neuromuscular, and metabolic etiologies was negative and whole exome sequencing revealed a novel mutation in the gene, consistent with a diagnosis of CHN3.
View Article and Find Full Text PDFNonvesicular lipid transfer drives myelin growth in the central nervous system.
Nat Commun
November 2024
Institute of Neuronal Cell Biology, Technical University of Munich, Munich, Germany.
Oligodendrocytes extend numerous cellular processes that wrap multiple times around axons to generate lipid-rich myelin sheaths. Myelin biogenesis requires an enormously productive biosynthetic machinery for generating and delivering these large amounts of newly synthesized lipids. Yet, a complete understanding of this process remains elusive.
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