Molecular analysis of the camp- response element [CRE] elements in the promoter region and exon 1 of the survival of motor neuron 2 [SMN2] gene in Malaysian spinal muscular atrophy patients; to elucidate their role in circumscribing the clinical severity of SMA

• Main Authors: Amin Baig, Atif, Y.Y., Chan, Manickam, Ravichandran
• Format: Article
• Language: English
• Published: 2014
• Subjects: QH301 Biology; R Medicine (General)
• Online Access: http://eprints.unisza.edu.my/5586/1/FH02-FPSK-15-02353.jpg; http://eprints.unisza.edu.my/5586/
• Institution: Universiti Sultan Zainal Abidin

Objective: In the Spinal muscular atrophy [SMA] genes [SMN1 and SMN2 genes]; the CRE-II elements at -400 bp in the promoter region of the SMN genes and CRE-I element at +108 bp in the exon 1 of the SMN genes, are reported to have a role in c-AMP induce expression of the SMN genes through its binding affinity to CREB-1. This study was designed to determine the role of CRE sites in the circumscribing the clinical severity of SMA. Methods: Direct sequencing was performed for the PCR products of the promoter regions of the SMA patients with homozygous deletion of SMN1, different copy number of SMN2 and NAIP non deletion. Results: No variation among the CRE-I and CRE-II sites was found in all the clinical types as compare to normal healthy control showing no role of CRE sites in circumscribing the clinical severity of SMA. Conclusion: There was no sequence variation found in the CRE binding sites in the three different clinical types of SMA reflecting no role of CRE binding sites in circumscribing the clinical severity of SMA.