title: Is the 1254T>C polymorphism in the DMT1 gene associated with Parkinson's disease?
abstract: 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.
authors: Department of Medical Biology, Eskisehir Osmangazi University Faculty of Medicine, Eskisehir, Turkey.
authors: Selva Moheb
authors: SM
authors: Saadat
authors: Department of Medical Biology, Eskisehir Osmangazi University Faculty of Medicine, Eskisehir, Turkey.
authors: İrfan
authors: İ
authors: Değirmenci
authors: Department of Neurology, Eskisehir Osmangazi University Faculty of Medicine, Eskisehir, Turkey.
authors: Serhat
authors: S
authors: Özkan
authors: Department of Medical Biology and Genetics, Recep Tayyip Erdogan University Faculty of Medicine, Rize 53200 Turkey. Electronic address: faruk.saydam@erdogan.edu.tr.
authors: Faruk
authors: F
authors: Saydam
authors: Department of Medical Biology, Eskisehir Osmangazi University Faculty of Medicine, Eskisehir, Turkey.
authors: Zeynep
authors: Z
authors: Özdemir Köroğlu
authors: Department of Biostatistics, Eskisehir Osmangazi University Faculty of Medicine, Eskisehir, Turkey.
authors: Ertuğrul
authors: E
authors: Çolak
authors: Department of Medical Biology, Eskisehir Osmangazi University Faculty of Medicine, Eskisehir, Turkey.
authors: Hasan Veysi
authors: HV
authors: Güneş
mesh_terms: D000368:Aged; D016022:Case-Control Studies; D027682:Cation Transport Proteins / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D000099236:Solute Carrier Family 11, Member 2
chemical_list: D027682:Cation Transport Proteins; D000099236:Solute Carrier Family 11, Member 2
keywords: Divalent metal transporter 1; Parkinson’s disease; Single nucleotide polymorphism