Effect of the 50 bp deletion polymorphism in the SOD1 promoter on SOD1 mRNA levels in Italian ALS patients.

@article{Milani2012EffectOT,
  title={Effect of the 50 bp deletion polymorphism in the SOD1 promoter on SOD1 mRNA levels in Italian ALS patients.},
  author={Pamela Milani and Stella Gagliardi and Paolo Bongioanni and Gaetano Salvatore Grieco and M Dezza and Matteo Bianchi and Emanuela Cova and Mauro Ceroni and Cristina Cereda},
  journal={Journal of the neurological sciences},
  year={2012},
  volume={313 1-2},
  pages={75-8}
}
The genetic association between homozygosity for a 50 bp deletion polymorphism in the SOD1 promoter, 1684 bp upstream of the ATG, and an increased age of symptom onset was observed in various populations of ALS patients. Moreover, it has been demonstrated that this deletion reduces SOD1 expression in vitro. The objective of the present study was to test whether the observed association is replicated in patients from an Italian population and to check whether the deletion correlates with reduced… CONTINUE READING
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