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What Could Be the Function of the Spinal Muscular Atrophy-causing Protein SMN in Macrophages?

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Journal Front Immunol
Date 2024 Jun 12
PMID 38863697
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Abstract

Spinal Muscular Atrophy (SMA), a neurodegenerative disorder, extends its impact beyond the nervous system. The central protein implicated in SMA, Survival Motor Neuron (SMN) protein, is ubiquitously expressed and functions in fundamental processes such as alternative splicing, translation, cytoskeletal dynamics and signaling. These processes are relevant for all cellular systems, including cells of the immune system such as macrophages. Macrophages are capable of modulating their splicing, cytoskeleton and expression profile in order to fulfil their role in tissue homeostasis and defense. However, less is known about impairment or dysfunction of macrophages lacking SMN and the subsequent impact on the immune system of SMA patients. We aimed to review the potential overlaps between SMN functions and macrophage mechanisms highlighting the need for future research, as well as the current state of research addressing the role of macrophages in SMA.

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References
1.
Hume D, Summers K, Rehli M . Transcriptional Regulation and Macrophage Differentiation. Microbiol Spectr. 2016; 4(3). DOI: 10.1128/microbiolspec.MCHD-0024-2015. View

2.
Stejskalova E, Stanek D . The splicing factor U1-70K interacts with the SMN complex and is required for nuclear gem integrity. J Cell Sci. 2014; 127(Pt 18):3909-15. DOI: 10.1242/jcs.155838. View

3.
Monani U, Lorson C, Parsons D, Prior T, Androphy E, Burghes A . A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2. Hum Mol Genet. 1999; 8(7):1177-83. DOI: 10.1093/hmg/8.7.1177. View

4.
Wajahat M, Bracken C, Orang A . Emerging Functions for snoRNAs and snoRNA-Derived Fragments. Int J Mol Sci. 2021; 22(19). PMC: 8508363. DOI: 10.3390/ijms221910193. View

5.
Zhang R, So B, Li P, Yong J, Glisovic T, Wan L . Structure of a key intermediate of the SMN complex reveals Gemin2's crucial function in snRNP assembly. Cell. 2011; 146(3):384-95. PMC: 3160754. DOI: 10.1016/j.cell.2011.06.043. View