Transcript levels of plastin 3 and neuritin 1 modifier genes in spinal muscular atrophy siblings

Abstract

On analysis of the expression of NRN1 in SMA patients for the first time, NRN1 could be a potential modifier gene. PLS3 expression does not always modify SMA phenotype. In patients with no modifier effect of known genes, genome sequencing and transcriptome analysis are promising for the identification of novel modifiers and understanding of SMA pathophysiology.

Investigation on the Effects of Modifying Genes on the Spinal Muscular Atrophy Phenotype

“…Thus, the NRN1 gene was reported to have no modifying effect. 21,22 In this study, the NRN1 gene expression was higher (4.29 times) in our patient with SMA type II (P10) than in the other patients and the healthy control group. This result supports the literature reporting the modifying effect of the NRN1 gene.…”

Investigation on the Effects of Modifying Genes on the Spinal Muscular Atrophy Phenotype

“…Thus, the NRN1 gene was reported to have no modifying effect. 21,22 In this study, the NRN1 gene expression was higher (4.29 times) in our patient with SMA type II (P10) than in the other patients and the healthy control group. This result supports the literature reporting the modifying effect of the NRN1 gene.…”

Genomic analysis of a spinal muscular atrophy (SMA) discordant family identifies a novel mutation in TLL2, an activator of growth differentiation factor 8 (myostatin): a case report

“…Yener et al stated that the expression levels of PLS3 and NRN1 were different between the patients from SMA discordance families. However, their findings also show that PLS3 and NRN1 expressions do not always modify SMA phenotype [10]. In our study, the phenotype discordance could be modified by PLS3 , ZPR1 or NRN1 on expression level.…”

Do Perineuronal Net Elements Contribute to Pathophysiology of Spinal Muscular Atrophy? In Vitro and Transcriptomics Insights

“…In recent years, there has been an effort to search for modifier genes in SMA families with affected siblings that show variable clinical severity. Studies on modifier genes such as plastin 3 ( PLS3 ) and neuritin 1 ( NRN1 ) genes have conflicting results, suggesting that novel genetic modifiers should be identified and characterized (Bernal et al, 2011; Oprea et al, 2008; Stratigopoulos et al, 2010; Yener et al, 2017).…”

Investigation on the Effects of Modifying Genes on the Spinal Muscular Atrophy Phenotype

“…Thus, the NRN1 gene was reported to have no modifying effect. 21,22 In this study, the NRN1 gene expression was higher (4.29 times) in our patient with SMA type II (P10) than in the other patients and the healthy control group. This result supports the literature reporting the modifying effect of the NRN1 gene.…”

Genomic analysis of a spinal muscular atrophy (SMA) discordant family identifies a novel mutation in TLL2, an activator of growth differentiation factor 8 (myostatin): a case report

“…Yener et al stated that the expression levels of PLS3 and NRN1 were different between the patients from SMA discordance families. However, their findings also show that PLS3 and NRN1 expressions do not always modify SMA phenotype [10]. In our study, the phenotype discordance could be modified by PLS3 , ZPR1 or NRN1 on expression level.…”

Do Perineuronal Net Elements Contribute to Pathophysiology of Spinal Muscular Atrophy? In Vitro and Transcriptomics Insights

“…In recent years, there has been an effort to search for modifier genes in SMA families with affected siblings that show variable clinical severity. Studies on modifier genes such as plastin 3 ( PLS3 ) and neuritin 1 ( NRN1 ) genes have conflicting results, suggesting that novel genetic modifiers should be identified and characterized (Bernal et al, 2011; Oprea et al, 2008; Stratigopoulos et al, 2010; Yener et al, 2017).…”

Investigation on the Effects of Modifying Genes on the Spinal Muscular Atrophy Phenotype

“…Thus, the NRN1 gene was reported to have no modifying effect. 21,22 In this study, the NRN1 gene expression was higher (4.29 times) in our patient with SMA type II (P10) than in the other patients and the healthy control group. This result supports the literature reporting the modifying effect of the NRN1 gene.…”

Genomic analysis of a spinal muscular atrophy (SMA) discordant family identifies a novel mutation in TLL2, an activator of growth differentiation factor 8 (myostatin): a case report

“…Yener et al stated that the expression levels of PLS3 and NRN1 were different between the patients from SMA discordance families. However, their findings also show that PLS3 and NRN1 expressions do not always modify SMA phenotype [10]. In our study, the phenotype discordance could be modified by PLS3 , ZPR1 or NRN1 on expression level.…”

Do Perineuronal Net Elements Contribute to Pathophysiology of Spinal Muscular Atrophy? In Vitro and Transcriptomics Insights

“…In recent years, there has been an effort to search for modifier genes in SMA families with affected siblings that show variable clinical severity. Studies on modifier genes such as plastin 3 ( PLS3 ) and neuritin 1 ( NRN1 ) genes have conflicting results, suggesting that novel genetic modifiers should be identified and characterized (Bernal et al, 2011; Oprea et al, 2008; Stratigopoulos et al, 2010; Yener et al, 2017).…”