NAIP-Deletion Analysis in Malaysian Patients with Spinal Muscular Atrophy

概要

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Spinal Muscular Atrophy (SMA) is an autosomal recessive disease, which ischaracterized by degeneration of the anterior horn cells of the spinal cord. SMA isclassified into 3 clinical subtypes, type I (severe), type II (intermediate), and type III(mild). Two genes, SMN1 and NAIP, have been identified as SMA-related genes. TheSMN1 gene is now recognized as a responsible gene for the disease because it is deletedor mutated in most SMA patients. However, the role of the NAIP gene in SMA has notbeen fully clarified. To clarify the contribution of NAIP to the disease severity of SMA,we studied the relationship between NAIP-deletion and clinical phenotype in Malaysianpatients. A total of 39 patients lacking SMN1 (12 type I, 19 type II, and 8 type IIIpatients) were enrolled into this study. Seven out of 12 patients with type I SMA(~60%) showed NAIP deletion. On the contrary, only 2 out of 20 type II patients andnone of type III patients showed NAIP deletion. There was a statistically significantdifference in NAIP-deletion frequency among the clinical subtypes (Fisher's exactprobability test, p value = 0.014). In conclusion, according to our data that NAIPdeletion was more frequent in type I SMA than in type II-III SMA, the NAIP gene maybe a modifying factor for disease severity of SMA.