Transcript levels of plastin 3 and neuritin 1 modifier genes in spinal muscular atrophy siblings
| Autor: | Haluk Topaloglu, Sevim Erdem-Ozdamar, İnci Hande Yener, Didem Dayangac-Erden |
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| Rok vydání: | 2016 |
| Předmět: |
Male
0301 basic medicine Adolescent Alpha (ethology) GPI-Linked Proteins Real-Time Polymerase Chain Reaction Bioinformatics Muscular Atrophy Spinal Transcriptome Young Adult 03 medical and health sciences 0302 clinical medicine Genotype medicine PLS3 Humans Child Gene Genetics Genes Modifier Membrane Glycoproteins business.industry Siblings Microfilament Proteins Neuropeptides Spinal muscular atrophy medicine.disease SMA Phenotype 030104 developmental biology Gene Expression Regulation Pediatrics Perinatology and Child Health Female business 030217 neurology & neurosurgery |
| Zdroj: | Pediatrics International. 59:53-56 |
| ISSN: | 1328-8067 |
| Popis: | BACKGROUND In single gene disorders, patients with the same genotype may have variations in severity. One of the main factors affecting disease severity is modifier genes. Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by degeneration of alpha motor neurons. Plastin 3 (PLS3) is a phenotypic modifier of SMA, and neuritin 1 (NRN1) has also been suggested as a possible modifier gene. The aim of the present study was therefore to analyze PLS3 and NRN1 expression in SMA siblings in four families. METHODS The study group consisted of four SMA families with seven with discordant phenotype and two affected siblings. Total RNA was isolated from whole blood. PLS3 and NRN1 expression was analyzed on quantitative real-time polymerase chain reaction. RESULTS In family 1 only NRN1 expression was increased in the mildly affected sister. In family 2 only PLS3 had a modifier effect. Family 3, which had type III siblings with identical clinical phenotypes, had similar PLS3 expression between the siblings but no NRN1 expression. In family 4, neither PLS3 nor NRN1 had any correlation with severity. CONCLUSION 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. |
| Databáze: | OpenAIRE |
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