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Unraveling Isoform Complexity: The Roles of M1- and M87-Spastin in Spastic Paraplegia 4 (SPG4).
Mov Disord
November 2024
Department of Neurobiology and Anatomy, Drexel University College of Medicine, Philadelphia, Pennsylvania, USA.
Article Synopsis
- Spastic Paraplegia 4 (SPG4) is a serious neurological disorder that causes increasing weakness and stiffness in the legs, affecting walking ability, and is linked to mutations in the SPAST gene which encodes the spastin protein.
- The review examines the two main forms of spastin (M1 and M87), their genetic structure, and their uncertain roles in SPG4, highlighting the need for more research on how these isoforms contribute to the disease's progression.
- The authors propose new theories on how M1- and M87-spastin interact, suggesting this could lead to new treatment approaches for SPG4 and emphasizing the importance of understanding the specific functions of each spastin
Spastin accumulation and motor neuron defects caused by a novel SPAST splice site mutation.
J Transl Med
September 2024
Department of Neurology, Peking Union Medical College, Peking Union Medical College Hospital, Chinese Academy of Medical Science, Beijing, 100730, China.
Article Synopsis
- Hereditary spastic paraplegia (HSP) is a rare disorder primarily caused by mutations in the SPAST gene, with a complex pathogenic mechanism that isn't fully understood.
- Researchers investigated a Chinese family to identify the causative gene of autosomal dominant HSP-SPAST and discovered a novel splice site variant that affects gene expression.
- Experiments showed that this mutation leads to a truncated protein causing cellular accumulation and resulting in significant developmental issues in zebrafish, including defects in motor neuron pathfinding and axon loss.
A novel variant (p.A524P) in Spastin is responsible for a Chinese family with hereditary spastic paraplegia.
Mol Biol Rep
September 2024
Department of Neurology, Affiliated Hospital of Yangzhou University, Yangzhou, 225001, China.
Background: Hereditary spastic paraplegia (HSP) represents a group of monogenic neurodegenerative disorders characterized by high clinical and genetic heterogeneity. HSP is characterized by slowly progressing hypertonia of both lower extremities, spastic gait, and myasthenia. The most prevalent autosomal dominant form of HSP, known as spastic paraplegia 4 (SPG4), is attributed to variants in the spastin (SPAST) gene.
View Article and Find Full Text PDFNovel SPAST mutation in a Han Chinese SPG4 patient: a case report.
Front Genet
July 2024
School of Medicine, Southeast University, Nanjing, China.
Spastic paraplegia type 4 (SPG4), the predominant form of Autosomal Dominant Hereditary spastic paraplegia (AD-HSP), is characterized by variants in the SPAST gene. This study reports a unique case of a late-onset SPG4 in a Han Chinese male, manifesting primarily as gait disturbances from lower extremity spasticity. Uncovered through whole-genome sequencing, a previously undocumented frameshift variant, c.
View Article and Find Full Text PDFSUMOylation of nuclear receptor Nor1/NR4A3 coordinates microtubule cytoskeletal dynamics and stability in neuronal cells.
Cell Biosci
July 2024
Research Center, CHU Sainte-Justine, 3175 Côte Ste-Catherine, Montréal, Québec, H3T 1C5, Canada.
Background: Nor1/NR4A3 is a member of the NR4A subfamily of nuclear receptors that play essential roles in regulating gene expression related to development, cell homeostasis and neurological functions. However, Nor1 is still considered an orphan receptor, as its natural ligand remains unclear for mediating transcriptional activation. Yet other activation signals may modulate Nor1 activity, although their precise role in the development and maintenance of the nervous system remains elusive.
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