Medical Journal of the Islamic Republic Of Iran
مجله پزشکی جمهوری اسلامی ایران
Med J Islam Repub Iran
Medical Sciences
http://mjiri.iums.ac.ir
2
journal2
1016-1430
2251-6840
8
10.18869/mjiri
14
8888
13
en
jalali
1390
9
1
gregorian
2011
12
1
25
4
online
1
fulltext
en
SMN1 and NAIP genes deletions in different types of spinal muscular atrophy in Khuzestan province, Iran
Human Genetics
Human Genetics
Original Research
Original Research
<p> <strong>Background:</strong> Spinal muscular atrophy (SMA) is the second most common lethal autosomal recessive disease. It is a neuromuscular disorder caused by degenerative of lower motor neurons and occasionally bulbar neurons leading to progressive limb paralysis and muscular atrophy. The SMN1 gene is recognized as a SMA causing gene while NAIP has been characterized as a modifying factor for the clinical severity and age at disease onset in SMA patients (SMA subtypes). The relationship between NAIP deletion and type of SMA remains to be clarified we investigated this gene alteration in all types of SMA patients.</p><p> <strong>Methods:</strong> Molecular analysis was performed on fifty patients with a clinical diagnosis of SMA in Khuzestan province. In addition to common PCR-RFLP analysis for exon 7 and 8 of SMN1 gene, as an internal control we analysed NAIP deletion with PCR of exon 5 of this gene in a multiplex PCR with exon 13 of it.</p><p> <strong>Results:</strong> Homozygous-deletion frequency rate for the telomeric copy of SMN (SMN1) exon 7 in all types (type I, II, Ш) of SMA was approximately 90% and the frequency of deletion in exon 7 and 8 together in all types estimated about 70%. Moreover NAIP gene was deleted in about 60% of these patients and this shows deletion in 91% of type I SMA patients. The correlation between NAIP-deletion and SMN1 mutation showed a high frequency rate.</p><p> <strong>Conclusion:</strong> In this study, high frequency of NAIP gene deletion in all type of disease shows the importance role of it in disease pathogenesis. High frequency of NAIP deletion in SMA type I, also shows the importance of the gene in type and severity of disease so it may be a modifier factor in severity of disease.</p>
Spinal Muscular Atrophy (SMA), Survival Motor Neuron (SMN) gene, Neuronal Apoptosis Inhibitory Protein (NAIP) gene.
216
221
http://mjiri.iums.ac.ir/browse.php?a_code=A-10-1-287&slc_lang=en&sid=1
Seyed Reza
Kazemi Nezhad
kazemi_reza@scu.ac.ir
20031947532846007539
20031947532846007539
Yes
Department of Genetics, Faculty of Science, Shahid Chamran Universityof Ahvaz, Ahvaz, Iran.
Fatemeh
Mosavi
fa.mosavi@gmail.com
20031947532846007540
20031947532846007540
No
Department of Genetics, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.
Ali Akbar
Momen
momen_ali@yahoo.com
20031947532846007541
20031947532846007541
No
Ahvaz Jundishapur University of Medical Sciences, Iran.
Hamid
Galehdari
galehdari187@yahoo.com
20031947532846007542
20031947532846007542
No
Department of Genetics, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.
Gholamreza
Mohamadian
ghalammahad@yahoo.com
20031947532846007543
20031947532846007543
No
Genetic Counseling Centre, Khuzestan Welfare Organization, Ahvaz, Iran.