Research articleIs the 1254TÂ >Â C polymorphism in the DMT1 gene associated with Parkinson's disease?

- The frequency of TT genotype for the 1254T > C polymorphism is high in PD patients.
- The frequency of T allele for the 1254T > C polymorphism is high in PD patients
- There is no association between the IVS4 + 44C > A polymorphism and PD

Parkinson's disease (PD) is a late-onset neurodegenerative disorder with both familial and sporadic presentation. The main pathological characteristic of PD is the death of dopaminergic neurons in the substantia nigra (SN) pars compacta. PD is the second most common neurodegenerative disease worldwide, after Alzheimer's disease. Recent studies have suggested increased levels of iron and iron-binding proteins in the brains of patients with PD. Divalent metal transporter 1 (DMT1) is one protein responsible for iron transport. Postmortem studies have shown an important increase in DMT1 levels in the SN of patients with PD. Our aim is to determine whether there is an association between DMT1 polymorphisms and PD. We analyzed two single nucleotide polymorphisms (1254T > C and IVS4 + 44C > A) in the DMT1 gene in patients with 97 Parkinson's disease and in 100 healthy controls using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). No association was found between the IVS4 + 44C > A polymorphism and PD, but the TT genotype and T allele of the 1254T > C polymorphism in the DMT1 gene were associated with PD (P = 0.002 and P = 0.012, respectively). In contrast to a previous study, our results suggest that the TT genotype and T allele of the 1254T > C polymorphism may be a risk factor for PD.