Transcript levels of plastin 3 and neuritin 1 modifier genes in spinal muscular atrophy siblings.
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. P...
| Publicado en: | Pediatrics International Vol. 59; no. 1; pp. 53 - 57 |
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| Autores principales: | , , , |
| Formato: | research tables/charts Journal Article |
| Publicado: |
Wiley-Blackwell
Jan2017
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=120786233&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 120786233 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 13288067 FS4 jtl: Pediatrics International issn: 13288067 maglogo: Y pubinfo: dt: Jan2017 vid: 59 iid: 1 pid: 480 pub: Wiley-Blackwell place: Malden, Massachusetts artinfo: ui: 120786233 120786233 120786233 10.1111/ped.13052 120786233 ppf: 53 ppct: 4 formats: tig: atl: Transcript levels of plastin 3 and neuritin 1 modifier genes in spinal muscular atrophy siblings. aug: au: Yener, İnci Hande Topaloglu, Haluk Erdem‐Özdamar, Sevim Dayangac‐Erden, Didem affil: Department of Medical Biology, Faculty of Medicine, Hacettepe University, Sihhiye Ankara, Turkey sug: subj: Siblings In Infancy and Childhood Muscular Atrophy, Spinal Familial and Genetic Genes Human Muscular Atrophy, Spinal Phenotype Gene Expression RNA Blood Polymerase Chain Reaction Severity of Illness Female Mutation Correlational Studies Family Child Adolescence Child: 6-12 years Adolescent: 13-18 years Female ab: 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. pubtype: Academic Journal doctype: research tables/charts Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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