Gen-gen pada Infertilitas Pria

Enrico G. Pairunan, Janette M. Rumbajan, Grace L. A. Turalaki

Abstract


Abstract: The purpose of this study was to determine the genes in male infertility and their roles, as well as to determine the quality abnormalities of spermatozoa in male infertility caused by genetic mechanisms. This research is a literature review conducted by collecting literature on the Pubmed database using the keywords “Gene” and “Male Infertility”, as well as determined criteria. This study obtained 14 literatures according to the existing criteria. The genes in male infertility are WDR19, ADGRG2, CFTR, SPATA, DNAJB13, TDRD, CHD7, DNAAF6, DNAH9, FKBPL, CFAP47, and USP26. The abnormalities obtained were azoospermia, oligozoospermia, asthenoteratozoospermia, and oligoasthenoteratozoospermia. The mechanisms of the genes involved in the above disorders are gene mutations and hypermethylation. In conclusion, ADGRG2, CFTR, CHD7, FKBPL gene mutations and the TDRD gene group and hypermethylation of the SPATA gene group were found in men with infertility who had abnormalities in spermatozoa concentration (oligozoospermia or azoospermia). DNAJB13 and DNAH9 gene mutations were found in men with infertility who had decreased sperm motility (asthenozoospermia). WDR19, DNAAF6, CFAP47, and USP26 gene mutations were found in infertile men with decreased spermatozoa motility and morphology (asthenoteratozoospermia). The CFTR gene mutation was observed in men with infertility with decreased concentration, motility, and morphology of spermatozoa (oligoasthenoteratozoospermia).

Keyword: Gene; Male infertility; Spermatozoa concentration; Spermatozoa motility; Spermatozoa morphology

 

Abstrak: Tujuan penelitian ini adalah untuk mengetahui gen-gen pada infertilitas pria beserta peranannya, serta mengetahui kelainan kualitas spermatozoa pada infertilitas pria yang disebabkan mekanisme genetika. Penelitian ini merupakan studi pustaka (literature review) yang dilakukan dengan mengumpulkan literatur pada database Pubmed menggunakan kata kunci “Gene” and “Male infertility”, serta kriteria yang ditentukan. Hasil: Penelitian ini mendapatkan 14 literatur sesuai kriteria yang ada. Gen - gen pada infertilitas pria adalah WDR19, ADGRG2, CFTR, SPATA, DNAJB13, TDRD, CHD7, DNAAF6, DNAH9, FKBPL, CFAP47, dan USP26. Kelainan yang didapatkan adalah azoospermia oligozoospermia, asthenozoospermia, asthenoteratozoospermia, dan oligoasthenoteratozoospermia. Mekanisme pada gen yang terlibat pada kelainan diatas adalah mutasi gen dan hipermetilasi. Sebagai simpulan, mutasi gen ADGRG2, CFTR, CHD7, FKBPL dan kelompok gen TDRD serta hipermetilasi kelompok gen SPATA didapatkan pada pria dengan infertilitas yang mengalami kelainan pada konsentrasi spermatozoa (oligozoospermia atau azoospermia). Mutasi gen DNAJB13 dan DNAH9 ditemukan pada pria dengan infertilitas yang mengalami penurunan motilitas spermatozoa (asthenozoospermia). Mutasi gen WDR19, DNAAF6, CFAP47, dan USP26 ditemukan pada pria infertil dengan penurunan motilitas dan morfologi spermatozoa (asthenoteratozoospermia). Adapun mutasi gen CFTR diamati pada pria yang mengalami infertilitas dengan penurunan konsentrasi, motilitas, dan morfologi spermatozoa (oligoasthenoteratozoospermia).

Kata Kunci: Gen; Infertilitas pria; Konsentrasi spermatozoa; Motilitas spermatozoa; Morfologi spermatozoa.



DOI: https://doi.org/10.35790/ebm.v10i1.38045

Refbacks

  • There are currently no refbacks.


 
View eBm Stats