SHAPOUR DAHAZ1*, ALIHOSSEIN SABERI2, MAHMOD ORAZIZADEH1, MANOCHEHR MACKVANDI3, ALI TEIMORRI3, NILOFAR NEYSI3
Departement of Anatomy, Jundi Shapour University, Ahvaz, Iran -
Genetic Department, Jundi Shapour University, Ahvaz, Iran -
Departement of Virology, Jundi Shapour University, Ahvaz, Iran
Introduction: Neurodegenerative diseases are among significant agent of mortality in human societies. The major cause of this
disease is the elimination of SMN1 gene exogenous 7 located on telomeric terminal of chromosome 5. The patients at least posses
one copy of SMN2 gene which is located on centromeric terminal and is slightly different from the main gene.
Methods: In the present study, TDP-43 gene was knocked down in Hela cell line, using siRNA technic and the expression level
of mRNA was evaluated in SMN1 gene by semi-quantitative index method and using real-time PCR.
Results: After statistical analyses the most important result was significant decrease in level of mRNA expression in SMN1
gene approximately by 6.14 fold. Sanger sequencing method was applied for exact evaluation of total TDP-43 gene length in the
patients and carriers.
Conclusion: In accordance with involvement of motor neurons in the anterior horn of the spinal cord and brain in ALS and
SMA diseases in this survey, it is suggested that the mentioned gene mutation in SMA disease can be effective in regulation of the
disease main gene expression.
Neurodegenerative, TD-P43 gene, knockdown, Tardbp gene