Spinal muscular atrophy molecular biology

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Editors-in-Chief: C. Michael Gibson, M.S., M.D.; Priyamvada Singh, MBBS

Overview

Spinal muscular atrophy is caused by the mutation in SMN1 (survival motor neuron 1)gene. SMN 1 gene produces SMN protein. This protein is ubiquitously found in all cells (located in both the cytoplasm and in the nucleus). The main function that is found to be associated with them are-

  • Components of spliceosome, involved in pre-m-RNA splicing (transcription) [1]
  • Involved in actin cytoskeletal dynamics (motor axon pathfinding)[2]
  • Involved in maintaining structural and physiological integrity of neuromuscular junction [3]

References

  1. Kolb SJ, Battle DJ, Dreyfuss G (2007). "Molecular functions of the SMN complex". J Child Neurol. 22 (8): 990–4. doi:10.1177/0883073807305666. PMID 17761654.
  2. Bowerman M, Anderson CL, Beauvais A, Boyl PP, Witke W, Kothary R (2009). "SMN, profilin IIa and plastin 3: a link between the deregulation of actin dynamics and SMA pathogenesis". Mol Cell Neurosci. 42 (1): 66–74. doi:10.1016/j.mcn.2009.05.009. PMID 19497369.
  3. Rossoll W, Bassell GJ (2009). "Spinal muscular atrophy and a model for survival of motor neuron protein function in axonal ribonucleoprotein complexes". Results Probl Cell Differ. 48: 289–326. doi:10.1007/400_2009_4. PMID 19343312.



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