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Review

The Importance of Digging into the Genetics of SMN Genes in the Therapeutic Scenario of Spinal Muscular Atrophy

1
Medicine Genetics Group, Vall d’Hebron Research Institute (VHIR), 08035 Barcelona, Spain
2
Department of Clinical and Molecular Genetics, Hospital Vall d’Hebron, 08035 Barcelona, Spain
3
Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 08035 Barcelona, Spain
*
Author to whom correspondence should be addressed.
Academic Editor: Merlin G. Butler
Int. J. Mol. Sci. 2021, 22(16), 9029; https://doi.org/10.3390/ijms22169029
Received: 28 July 2021 / Revised: 13 August 2021 / Accepted: 19 August 2021 / Published: 21 August 2021
(This article belongs to the Section Molecular Genetics and Genomics)
After 26 years of discovery of the determinant survival motor neuron 1 and the modifier survival motor neuron 2 genes (SMN1 and SMN2, respectively), three SMN-dependent specific therapies are already approved by FDA and EMA and, as a consequence, worldwide SMA patients are currently under clinical investigation and treatment. Bi-allelic pathogenic variants (mostly deletions) in SMN1 should be detected in SMA patients to confirm the disease. Determination of SMN2 copy number has been historically employed to correlate with the phenotype, predict disease evolution, stratify patients for clinical trials and to define those eligible for treatment. In view that discordant genotype-phenotype correlations are present in SMA, besides technical issues with detection of SMN2 copy number, we have hypothesized that copy number determination is only the tip of the iceberg and that more deepen studies of variants, sequencing and structures of the SMN2 genes are necessary for a better understanding of the disease as well as to investigate possible influences in treatment responses. Here, we highlight the importance of a comprehensive approach of SMN1 and SMN2 genetics with the perspective to apply for better prediction of SMA in positive neonatal screening cases and early diagnosis to start treatments. View Full-Text
Keywords: spinal muscular atrophy; survival motor neuron 1; survival motor neuron 2; genotype-phenotype correlations; variants; hybrid structure spinal muscular atrophy; survival motor neuron 1; survival motor neuron 2; genotype-phenotype correlations; variants; hybrid structure
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MDPI and ACS Style

Costa-Roger, M.; Blasco-Pérez, L.; Cuscó, I.; Tizzano, E.F. The Importance of Digging into the Genetics of SMN Genes in the Therapeutic Scenario of Spinal Muscular Atrophy. Int. J. Mol. Sci. 2021, 22, 9029. https://doi.org/10.3390/ijms22169029

AMA Style

Costa-Roger M, Blasco-Pérez L, Cuscó I, Tizzano EF. The Importance of Digging into the Genetics of SMN Genes in the Therapeutic Scenario of Spinal Muscular Atrophy. International Journal of Molecular Sciences. 2021; 22(16):9029. https://doi.org/10.3390/ijms22169029

Chicago/Turabian Style

Costa-Roger, Mar, Laura Blasco-Pérez, Ivon Cuscó, and Eduardo F. Tizzano. 2021. "The Importance of Digging into the Genetics of SMN Genes in the Therapeutic Scenario of Spinal Muscular Atrophy" International Journal of Molecular Sciences 22, no. 16: 9029. https://doi.org/10.3390/ijms22169029

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