POLYMORPHISMS OF HPC2/ELAC2 AND SRD5A2 (5α-Reductase Type II) GENES IN PROSTATE CANCER
İzmirli M1,*, Arikan B2, Bayazit Y3, Alptekin D4
*Corresponding Author: Muzeyyen İzmirli, Department of Medical Biology, Faculty of Medicine, Bezmialem Vakif University, 34093, Istanbul, Turkey; Tel.: +90-212-523-37-19, Fax: +90-212-523-23-26; E-mail: muzeyyenizmirli@gmail.com.
page: 31

INTRODUCTION

Prostate cancer results from alteration of the balance between cell proliferation and cell death in the prostate gland. This cancer accounts for 32% of total cancers in men [1]. Prostate cancer is caused by hormonal, dietary, environmental and genetic factors. The genes HPC2/ ELAC2, SRD5A2 (5α-reductase type II), HPC1 (hereditary prostate cancer 1), AR (androgen receptor), PSA (prostate specific antigen) are among the genes responsible for it [1]. The HPC2/ELAC2 gene belongs to a family of prostate cancer susceptibility genes which encode an evolutionarily conserved metal-dependent hydrolase [1] that is 3 processing endoribonuclease and to interact a component of the mitotic apparatus is a γ tubulin. Thus, it is suggested that the ELAC2 gene is associated with cell cycle control [2,3]. The HPC1/ELAC2 protein contains 826 amino acids. Its gene is located on chromosome 17p11.2 and contains 24 exons. The are includes two recurrent missense mutations (Ser217Leu and Ala541Thr) [4]. Steroid 5α-reductase type II irreversibly converts testosterone to dihydrotestosterone in prostatic cells [5,6]. Steroid 5α-reductase type II consists of 254 amino acids [7]. Its gene SRD5A2 contains five exons [8] and 56.4 kb and is located on chromosome 2p22- 23. The single nucleotide polymorphisms in this gene that have been studied in relation to prostate cancer are Ala49Thr and Val89Leu [9]. We have investigated the relationship between Ser217Leu and Ala541Thr polymorphisms in the HPC2/ELAC2 gene and Ala49Thr and Val89Leu polymorphisms in the SRD5A2 gene in Turkish men with prostate cancer.



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