A new study published in Global Medical Genetics investigated the relationship between the expression levels of 7 potential new modifier genes and spinal muscular atrophy (SMA).

Of these 7 genes, researchers found 1, SERF1A, to have a modifying effect on the disease, while the remaining 6 genes did not.

“This study is the first of its kind in the literature,” the authors of the study wrote.

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The severity of SMA can vary greatly between patients. It is known that the copy number of the SMN2 gene plays a crucial role in this. It is also known that there are other modifier genes, the expressions of which can have an effect on the severity of SMA.

Read more about SMA prognosis

Here, a team of researchers from Trakya University Faculty of Medicine in Edirne, Turkey, led by Emine Ikbal Atli, PhD, assessed the expression levels of PLS3, PFN2, ZPR1, CORO1C, GTF2H2, NRN1, SERF1A, NCALD, NAIP, and TIA1 and investigated their potential effects on the prognosis of SMA.

Of these, PLS3, NAIP, and NRN1 are already known to have an effect on disease severity and prognosis in SMA. 

The researchers assessed 17 patients with SMA and 8 healthy controls. They divided the patients into 4 groups. Those in the first group had no increase in SMN2 copy number, while those in the remaining 3 groups had an increase in the copy number of the SMN2 gene. Patients in group 2 could sit unsupported but had never walked. Those in group 3 could sit by themselves and had late muscle development. Finally, those in group 4 could walk with difficulty and had muscle soreness.

The researchers found that there were statistically significant differences in PLS3, NAIP, NRN1, and SERF1A gene expression between the first group and the other 3 groups and between the first group and healthy controls. 

This finding suggests that SERF1A could be a novel modifier gene in SMA.


Zhuri D, Gurkan H, Eker D, et al. Investigation on the effects of modifying genes on the spinal muscular atrophy phenotype. Glob Med Genet. 2022;9(3):226-236. doi:10.1055/s-0042-1751302