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Published on: May 8, 2016
Functional MxA promoter polymorphism associated with subacute sclerosing panencephalitis
1Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan. htorys@pediatr.med.kyushu-u.ac.jp
Background:
The antivirally active MxA protein is induced by interferon (IFN) alpha/beta and inhibits the replication of single-stranded RNA viruses including measles virus (MV). The authors investigated whether the MxA gene contributed to the development of subacute sclerosing panencephalitis (SSPE) in Japanese individuals.
Methods:
Single-nucleotide polymorphisms (SNP) in the promoter region of the MxA gene were screened, association studies were performed between two SNP and SSPE, and then a functional difference in the promoter activities of the two SNP was investigated by a dual luciferase reporter assay.
Results:
Four SNP were found (-88 G/T, -123 C/A, -200 T/C, and -213 G/T), and SSPE patients exhibited a higher frequency of both the -88T allele and the -88TT genotype than controls (p = 0.040 and 0.003). The IFN-induced up-regulation of the MxA promoter activity of the sequence with -88T was found to be significantly higher than that with G.
Conclusions:
MxA promoter -88 G/T SNP may confer host genetic susceptibility to SSPE in Japanese individuals. The finding that homozygotes of the MxA -88T allele with a high MxA-producing capability were more frequently seen in SSPE patients suggests that the MxA protein promotes the establishment of persistent MV infection of neural cells.
Insights
Genetic variations in the MxA gene promoter may increase susceptibility to subacute sclerosing panencephalitis (SSPE). Japanese individuals with a specific MxA gene variant showed higher MxA protein production, potentially promoting persistent measles virus infection.
Area of Science:
- Virology
- Immunogenetics
- Neuroscience
Background:
- The MxA protein, induced by interferon (IFN), inhibits single-stranded RNA virus replication, including measles virus (MV).
- Subacute sclerosing panencephalitis (SSPE) is a severe neurological complication of measles virus infection.
Purpose of the Study:
- To investigate the association between MxA gene single-nucleotide polymorphisms (SNPs) and the development of SSPE in Japanese individuals.
- To determine if MxA promoter variants influence MxA gene expression and host susceptibility to SSPE.
Main Methods:
- Screening of MxA gene promoter SNPs.
- Association studies between two MxA SNPs and SSPE in Japanese patients.
- Dual luciferase reporter assay to assess MxA promoter activity.
Main Results:
- Four MxA promoter SNPs were identified: -88 G/T, -123 C/A, -200 T/C, and -213 G/T.
- SSPE patients showed a higher frequency of the -88T allele and -88TT genotype compared to controls.
- The MxA promoter with the -88T variant exhibited significantly higher IFN-induced activity than the -88G variant.
Conclusions:
- The MxA promoter -88 G/T SNP may confer genetic susceptibility to SSPE in Japanese individuals.
- Homozygotes for the MxA -88T allele, associated with high MxA production, were more prevalent in SSPE patients.
- This suggests that MxA protein may facilitate persistent MV infection in neural cells, contributing to SSPE pathogenesis.
