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Published on: July 14, 2016
Alpha-1-antichymotrypsin gene polymorphism and susceptibility to multiple system atrophy (MSA)
Yoshiko Furiya1, Makito Hirano, Norio Kurumatani
1Department of Neurology, Nara Medical University, Medial School, Kashihara, Nara 634-8521, Japan. yoshikof@naramed-u.ac.jp
Abstract:
We investigated three genotypes (AA, AT, and TT) produced by signal peptide polymorphism of the alpha-1-antichymotrypsin (ACT) gene in 105 patients with multiple system atrophy (MSA) and age-matched controls. The frequency of ACT-AA genotype was significantly higher in patients with MSA (20.0%) than in controls (10.5%). The onset of MSA was significantly earlier and the disease progressed significantly faster in patients with ACT-AA genotype than in those with non-ACT-AA genotypes. The ACT concentration in cerebrospinal fluid was increased in patients with ACT-AA. To our knowledge, this is the first study to show that the ACT-AA genotype is a risk factor and modulating factor for MSA. Our findings suggest the involvement of ACT-relating inflammatory process in the pathogenesis of MSA.
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