A Study of Ser217Leu and Ala541Thr Polymorphism in the Men Afflicted with Prostate Cancer and in the Men being Suspicious of Prostate Cancer

Abstract

Background and objective: Prostate cancer is one of the most widespread cancers among men throughout the world. In addition, it is the second cause of death after lung cancer. Occurrence of the prostate cancer is variable in various regions of the world. Solely, there are three known risk factors for the prostate cancer, including: Age, inheritance and ethnic origin. ELAC2 protein is a phosphodiesterase enzyme encoded by ELAC2 gene in human. This gene is placed on chromosome 17, and it is believed that product of the mentioned gene is an endonuclease contributed in puberty of mitochondrion’s tRNA. From clinical viewpoint, variables of ELAC2 gene such as Ser217Leu and Ala541Thr Missense mutations which are accompanied by hereditary prostate cancer ( HPC2 ).Objective of this study is to investigate Ser217Leu (rs4792311) and Ala541Thr (rs5030739) polymorphisms in the individuals with prostate cancer or those who are suspicious of prostate cancer with family past record/history. Study method: In this study conducted by case-control method in 2018, 102 men with prostate cancer and 98 men being suspicious of prostate cancer out of 10 families referred to shahid Rajaei Hospital in Tonekabon county to study and check were investigated. After collection of data using questionnaire, sampling from individuals and performance of the rest steps, study of polymorphism was carried out by PCR sequencing technique, and the results were analyzed by Chromas software. Finding: Of the total studied 102 individuals, 44 individuals (43.1%) were homozygote for Ser217Leu mutation, 36 individuals (35.2%) were heterozygote and 22 individuals (21.5%) lacked Missense mutation. for Ala541Thr mutation, 18 ones (17.6%) were heterozygote and 84 ones (82.3%) lacked Missense mutation. For Ser217Leu mutation, out of 98 suspicious individuals, 21 individuals (21.4%) were homozygote. 6 individuals (6.1%) were heterozygote and 71 individuals (72.4%) lacked the mutation. For Ala541Thr mutation, 15 ones (15.3%) were homozygote and 84 ones (84.6%) lacked the studied mutation. Conclusion: Results of this research showed that, in the individuals with the prostate cancer, there is a relationship between Ser217Leu and Ala541Thr polymorphism of ELAC2 gene and/with prostate cancer, and the suspicious individuals gotten involved in the mutation must take action to prevent this cancer.

Evaluation of HNF1B, KLK3, ELAC2, TMPRSS2‐ERG, and CTNNB1 polymorphisms associated with prostate cancer in samples of patients from HUPE‐UERJ

“…The presence of the 217Leu variant, as a heterozygous or homozygous mutation, is indicative of an increased risk of hereditary PCA by up to twofold. This association has been demonstrated more recently by Djomkam et al 28 and Zahiri and Zahiri 32 …”

“…This association has been demonstrated more recently by Djomkam et al 28 and Zahiri and Zahiri. 32 TMPRSS2 is a prostatic gene that encodes transmembrane serine protease 2 and is located on chromosome 21q22, where rearrangements are common. It is expressed in healthy prostatic cells and may be overexpressed in prostatic tumor cells.…”

A Case Study on PPM1D and 9 Other Shared Germline Alterations in a Family

“…The segregated variant rs1566734 (PTPRJ) with the highest frequency in Jewish population, is not associated with increased cancer risk (Laczmanska et al, 2019 ). Studies show a corelation between rs4792311 (ELAC2) and prostate cancer (Zahiri, 2020). The rs1881420 (ALK) and rs1881421 (ALK) is associated with the squamous cell carcinoma of lung (Mansour et al, 2020), rs1670283 (ALK) is shown to be associated with hereditary cancer predisposing syndrome and neuroblastoma 3 (Machlowska et al, 2020).…”

Carriage of Ser217Leu and Ala541Thr Variants of ELAC2 Gene and Risk Factors in Patients with Prostate Cancer in Burkina Faso

“…The ELAC2 gene located at position 17p12, with a size of 26.454 kb, having 25 exons, encodes a metal-dependent hydrolase of 826 amino acids (of 92 kilo-Dalton) potentially involved in the repair of DNA interstrand cross-linking and mRNA editing [ 14 , 15 ]. Sequence analysis of HPC2/ELAC2 identified four sequence variants, including a rare frameshift and three missense changes, two of which were common in the study populations [ 9 , 16 – 18 ]. These two missense mutations C650T and G1621A result in a change of the amino acid serine to leucine at position 217 and a change of alanine to threonine at position 541, respectively.…”