More than 95% of SMA patients are homozygous for survival motor neuron 1 (SMN 1) deletion. The symptoms are caused by defects of lower motor neurons in the spinal cord. Spinal muscular atrophy ( SMA) is one of the most common autosomal recessive disorders. Niba, Emma Tabe Eko Ar Rochmah, Mawaddah Harahap, Nur Imma Fatimah Awano, Hiroyuki Morioka, Ichiro Iijima, Kazumoto Saito, Toshio Saito, Kayoko Takeuchi, Atsuko Lai, Poh San Bouike, Yoshihiro Nishio, Hisahide Shinohara, Masakazu

SMA Diagnosis: Detection of SMN 1 Deletion with Real-Time mCOP-PCR System Using Fresh Blood DNA. From the computational analysis, it is also possible that SMN's Lys45 and Asp36 act as two electrostatic clips at the SMN-Gemin2 complex structure interface. Of extraordinary interest, the structural analysis highlights three SMN residues (Asp44, Glu134 and Gln136 with SMA-linked missense mutations, which cause disruptions of electrostatic interactions for Asp44, Glu134 and Gln136, and result in three functionally deficient SMA-linked SMN mutants, Asp44Val, Glu134Lys and Gln136Glu. To investigate how SMA-linked mutations of SMN 1 lead to structural/functional deficiency of SMN, a set of computational analysis of SMN-related structures were conducted and are described in this article. As the product of SMN 1, SMN is a component of the SMN complex, and is also involved in the biosynthesis of the small nuclear ribonucleoproteins (snRNPs, which play critical roles in pre- mRNA splicing in the pathogenesis of SMA. SMA is caused by loss (âˆ❉5% of SMA cases or mutation (âˆ❅% of SMA cases of the survival motor neuron 1 gene SMN 1. How do SMA-linked mutations of SMN 1 lead to structural/functional deficiency of the SMA protein?ĭirectory of Open Access Journals (Sweden)įull Text Available Spinal muscular atrophy ( SMA is an autosomal recessive neuromuscular disease with dysfunctional Î±-motor neurons in the anterior horn of the spinal cord.

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