Abstract
Infertility is a complex human condition and is known to be caused by numerous factors including genetic alterations and abnormalities. Increasing evidence from studies has associated perturbed epigenetic mechanisms with spermatogenesis and infertility. However, there has been no consensus on whether one or a collective of these altered states is responsible for the onset of infertility. Epigenetic alterations involve changes in factors that regulate gene expression without altering the physical sequence of DNA. Understanding these altered epigenetic states at the genomic level along with higher order organisation of chromatin in genes associated with infertility and pericentromeric regions of chromosomes, particularly 9 and Y, could further identify causes of idiopathic infertility. Determining the association between DNA methylation, chromatin state, and noncoding RNAs with the phenotype could further determine what possible mechanisms are involved. This paper reviews certain mechanisms of epigenetic regulation with particular emphasis on their possible role in infertility.
Highlights
Identifying factors involved in the aetiology and physiology of complex disorders and conditions such as infertility is necessary in order to understand potential regulatory mechanisms involved in disease pathogenesis
Studying the association of these factors in the part they play with genetic factors and altered epigenetic mechanisms regulating gene expression could facilitate a better understanding of this chronic condition [5, 6]
This further established a link between epigenetic mechanisms unique to each individual and the onset of infertility. Both these studies agreed on factors unique to each individual twin as being associated with the disease phenotype. These epigenetic factors including DNA methylation and chromatin state, unique to each monozygotic twin could be attributed in part to their infertile state
Summary
Identifying factors involved in the aetiology and physiology of complex disorders and conditions such as infertility is necessary in order to understand potential regulatory mechanisms involved in disease pathogenesis. The infertility phenotype affects both men and women and has been shown to have an impact on one’s mental state and lifestyle and has been implicated with being the cause or effect of certain medical conditions [1, 4]. The occurrence of such a high population incidence rate could be attributed to the afflicted individual’s age, environment, and lifestyle. Understanding the complex role of one’s genotype, environment, and age with changes in one’s epigenotype could further categorise the unknown causes of the disease in addition to understanding the regulatory mechanisms involved in the control of expression and/or repression of genes affecting the infertility phenotype
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