open access

Vol 56, No 4 (2018)
Original paper
Submitted: 2018-07-14
Accepted: 2018-10-29
Published online: 2018-11-26
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The expression of SMN1, MART3, GLE1 and FUS genes in spinal muscular atrophy

Aziza Alrafiah12, Maimonah Alghanmi1, Sufana Almashhadi34, Aqeel Aqeel1, Adel Awaji1
DOI: 10.5603/FHC.a2018.0022
·
Pubmed: 30565205
·
Folia Histochem Cytobiol 2018;56(4):215-221.
Affiliations
  1. Department of Laboratory Technology, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Saudi Arabia
  2. Neuroscience Research Unit, Faculty of Medicine, King Abdul Aziz University, Jeddah, Saudi Arabia
  3. National Neuroscience Institute, King Fahad Medical City, Riyadh, Saudi Arabia
  4. Institute for Brain Research, Massachusetts Institute of Technology, Cambridge, USA

open access

Vol 56, No 4 (2018)
ORIGINAL PAPERS
Submitted: 2018-07-14
Accepted: 2018-10-29
Published online: 2018-11-26

Abstract

Introduction. Spinal muscular atrophy (SMA) is one of the most common genetic causes of death in infants due to a mutation of the motor neuron 1 (SMN1) gene. The SMN1 gene encodes for the multifunctional SMN protein. SMN has been shown to be implicated in pre-mRNA splicing, mRNA transport and translational control. Also other mRNA processing proteins, such as GLE1, Marten (MART3) and Fused in Sarcoma (FUS), have been linked to neurodegenerative diseases. The aim of the study was to determine the expression of SMN, GLE1, MART3 and FUS genes in cell lines of the fibroblasts derived from SMA patients and normal controls.
Material and methods. Total RNA was extracted from purchased fibroblasts acquired from three SMA type I patients and fibroblasts of three age-matched healthy controls. The RNA was then subjected to qPCR analysis using primers specific for the GLE1, MART3, FUS and SMN1 genes vs. GAPDH as internal control gene.
Results. SMN1 mRNA levels were at least ×10 lower in fibroblasts of SMA patients compared to controls. Gle1 and MART3 gene expression was ×2 downregulated whereas FUS mRNA levels appeared to be ×3 upregulated in SMA cells when compared to controls. We found a high correlation between FUS gene expression level to the SMN1 at gene expression level of fibroblast cell lines of SMA type I patients (r = 0.994, p < 0.0001).
Conclusions. Our preliminary data show an intriguing expression profile of Gle1, MART3 and FUS genes in SMA, and suggest a critical role of FUS protein in the SMA pathogenesis.

Abstract

Introduction. Spinal muscular atrophy (SMA) is one of the most common genetic causes of death in infants due to a mutation of the motor neuron 1 (SMN1) gene. The SMN1 gene encodes for the multifunctional SMN protein. SMN has been shown to be implicated in pre-mRNA splicing, mRNA transport and translational control. Also other mRNA processing proteins, such as GLE1, Marten (MART3) and Fused in Sarcoma (FUS), have been linked to neurodegenerative diseases. The aim of the study was to determine the expression of SMN, GLE1, MART3 and FUS genes in cell lines of the fibroblasts derived from SMA patients and normal controls.
Material and methods. Total RNA was extracted from purchased fibroblasts acquired from three SMA type I patients and fibroblasts of three age-matched healthy controls. The RNA was then subjected to qPCR analysis using primers specific for the GLE1, MART3, FUS and SMN1 genes vs. GAPDH as internal control gene.
Results. SMN1 mRNA levels were at least ×10 lower in fibroblasts of SMA patients compared to controls. Gle1 and MART3 gene expression was ×2 downregulated whereas FUS mRNA levels appeared to be ×3 upregulated in SMA cells when compared to controls. We found a high correlation between FUS gene expression level to the SMN1 at gene expression level of fibroblast cell lines of SMA type I patients (r = 0.994, p < 0.0001).
Conclusions. Our preliminary data show an intriguing expression profile of Gle1, MART3 and FUS genes in SMA, and suggest a critical role of FUS protein in the SMA pathogenesis.

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Keywords

Spinal muscular atrophy; fibroblasts; GLE1; SMN1; FUS; MART3; qPCR

About this article
Title

The expression of SMN1, MART3, GLE1 and FUS genes in spinal muscular atrophy

Journal

Folia Histochemica et Cytobiologica

Issue

Vol 56, No 4 (2018)

Article type

Original paper

Pages

215-221

Published online

2018-11-26

DOI

10.5603/FHC.a2018.0022

Pubmed

30565205

Bibliographic record

Folia Histochem Cytobiol 2018;56(4):215-221.

Keywords

Spinal muscular atrophy
fibroblasts
GLE1
SMN1
FUS
MART3
qPCR

Authors

Aziza Alrafiah
Maimonah Alghanmi
Sufana Almashhadi
Aqeel Aqeel
Adel Awaji

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