The common neurodegenerative disease spinal muscular atrophy is caused by reduced levels of the survival of motor neurons (SMN) protein. SMN associates with several proteins (Gemin2 to Gemin6) to form a large complex which is found both in the cytoplasm and in the nucleus. The SMN complex functions in the assembly and metabolism of several RNPs, including spliceosomal snRNPs. The snRNP core assembly takes place in the cytoplasm from Sm proteins and newly exported snRNAs. Here, we identify three distinct cytoplasmic SMN complexes, each representing a defined intermediate in the snRNP biogenesis pathway. We show that the SMN complex associates with newly exported snRNAs containing the nonphosphorylated form of the snRNA export factor PHAX. The second SMN complex identified contains assembled Sm cores and m(3)G-capped snRNAs. Finally, the SMN complex is associated with a preimport complex containing m(3)G-capped snRNP cores bound to the snRNP nuclear import mediator snurportin1. Thus, the SMN complex is associated with snRNPs during the entire process of their biogenesis in the cytoplasm and may have multiple functions throughout this process.
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http://dx.doi.org/10.1128/MCB.22.18.6533-6541.2002 | DOI Listing |
Arq Neuropsiquiatr
December 2024
Universidade de São Paulo, Faculdade de Medicina, Departamento de Neurologia, São Paulo SP, Brazil.
Background: Spinal muscular atrophy linked to chromosome 5q (SMA-5q) is a neurodegenerative disorder caused by mutations in the gene.
Objective: To describe the key demographic, clinical and genetic characteristics, as well as natural history data of patients with SMA-5q.
Methods: Up to January 2022, 706 patients with confirmed genetic diagnosis of SMA-5q, or their parents, completed a self-reported questionnaire on natural history, genetic characteristics, drug treatments, and multidisciplinary care.
Zh Nevrol Psikhiatr Im S S Korsakova
December 2024
JSC BIOCAD, St. Petersburg, Russia.
Spinal muscular atrophy (SMA) is a group of genetically heterogeneous neuromuscular diseases characterized by the progressive loss of motor neurons in the anterior horns of the spinal cord. The prevalence of SMA is approximately 1 in 10.000 live births.
View Article and Find Full Text PDFJ Neurol
December 2024
Department of Orthopedics, The Second Affiliated Hospital of Soochow University, No. 1055, Sanxiang Road, Suzhou, 215004, Jiangsu, China.
Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by deletions or mutations of survival of motor neuron 1 (SMN1) gene. To date, the mechanism of selective cell death of motor neurons as a hallmark of SMA is still unclear. The severity of SMA is dependent on the amount of survival motor neuron (SMN) protein, which is an essential and ubiquitously expressed protein involved in various cellular processes including regulation of cytoskeletal dynamics.
View Article and Find Full Text PDFMol Ther Methods Clin Dev
December 2024
Department of Neurology and Neurosurgery, UMC Utrecht Brain Center, Utrecht, the Netherlands.
The availability of three therapies for the neuromuscular disease spinal muscular atrophy (SMA) highlights the need to match patients to the optimal treatment. Two of these treatments (nusinersen and risdiplam) target splicing of , but treatment outcomes vary from patient to patient. An incomplete understanding of the complex interactions among SMA genetics, SMN protein and mRNA levels, and gene-targeting treatments, limits our ability to explain this variability and identify optimal treatment strategies for individual patients.
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