The importance of the SMN genes in the genetics of sporadic ALS

Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases
P CorciaC Andres

Abstract

The human genome contains two SMN (survival motor neuron) genes: SMN1, the telomeric gene whose homozygous deletion causes spinal muscular atrophy (SMA), and SMN2, the centromeric version whose copy number modulates the phenotype of SMA. We performed a Medline search and reviewed all of the publications that focus on SMN1 and SMN2 in amyotrophic lateral sclerosis (ALS) to analyse whether these genes also act as risk factors or phenotypic modulators in ALS. While homozygous deletion of SMN1 was not associated in ALS, abnormal SMN1 copy numbers significantly increased the risk of ALS. The role of the SMN2 gene in ALS needs further clarification. The existence of abnormal SMN1 copy numbers in ALS provides additional evidence that gene copy number variants may contribute to neurodegeneration and might open new approaches to treatment.

References

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Citations

Jan 10, 2013·Pharmacological Reviews·Chi-Tso ChiuDe-Maw Chuang
Jun 8, 2012·International Journal of Cell Biology·Luisa RossiMaria Teresa Carrì
Apr 12, 2013·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Maria DimitriadiAnne C Hart
Oct 22, 2013·Trends in Molecular Medicine·Dianne M A van den HeuvelR Jeroen Pasterkamp
Jul 8, 2014·Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration·Laura AlíasEduardo F Tizzano
Mar 13, 2013·Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration·Magdalena Kuźma-KozakiewiczBeata Kaźmierczak
Jan 5, 2011·Gender Medicine·Pamela A McCombe, Robert D Henderson
Jan 4, 2021·Annals of Neurology·Matthieu MoisseUNKNOWN Project MinE Sequencing Consortium

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