Human Reproductive Disorder or Infertility is a complex social problem with different causes. In some communities, infertile people are ostracized as they are perceived to be unlucky or the source of evil, or they become the object of public humiliation and shame. Some even choose suicide over the torturous life and mental anguish caused by infertility. In other communities, infertile men and women are often denied proper death rights. For women in many countries, infertility may result in life-threatening physical as well as psychological violence. According to WHO, 2002, childless women are generally blamed for their infertility, despite the fact that male factors contribute to at least half of the cases of infertility around the world. In less developed parts of the world, being childless has more negative social, cultural, and emotional repercussions for women than, perhaps, any other non-life-threatening condition.
Infertility is a very frequent medical problem, around 15% of the couples worldwide face fertility issues. Both partners contribute equally to fertility and infertility, while the causes of infertility are very diverse including genetic, cytogenetic, and environmental. A number of genetic and cytogenetic causes have been identified for both male and female infertility. Genetic infertility, especially male infertility, is caused by chromosomal abnormalities which involve an abnormal number or structure of sex chromosomes or autosomes are found in approximately 5% of infertile men. Other than chromosomal enormities, single-gene mutations got much attention in recent years. These mutations were identified in genes known to be responsible for germ cell development or for other reproductive processes. Thousands of genes in these categories are expressed in human testes and ovaries, and any of them can potentially cause infertility when mutated.
Thousands of mouse models have been generated to study the underlying mechanisms of the candidate genes selected from human infertile subjects. These models represent defects at different steps of sperm or egg development. Also, several hundred mutations have been identified in men suffering reproductive defects and by analogy with the mouse model. However, a more or less similar number of mutations were identified in infertile women.
Moreover, the routine testing for male infertility causes is so far limited to Y-chromosome microdeletions testing using commercially available PCR-based kits. At the present time, more attention is being given to the structure of 3’UTRs which are targets for several types of small regulatory RNAs (srRNAs). Importantly, these targets may not be properly recognized when mutated. There is a huge gap between genetic research and its clinical application in infertility, thus reliable infertility biomarkers are urgently needed.
Recent advances in next-generation sequencing (NGS) technologies have brought a paradigm shift in how both rare and common human disorders are investigated. Genetic human reproductive disorders are no different from this, especially when studying familial infertility. The ability cost-effectively to generate genome-wide sequencing data with deep coverage in a short time frame is replacing approaches that focus on specific regions for gene discovery and clinical testing.
The aim of the current special article collection “Molecular and Cytogenetics Research Advancements in Human Reproduction” is to publish potential articles in the same field. Special focus is given to genes and their underlying mechanisms in human infertility (male/female) and their clinical applications. Studies related to male and female infertility (especially Spermatogenesis and Oogenesis) using advanced genetic and cytogenetic techniques, mouse models of the corresponding human phenotype are being considered for publication. Original Research papers, short Communications, Case Reports, and Review articles related to reproduction will be considered.
Human Reproductive Disorder or Infertility is a complex social problem with different causes. In some communities, infertile people are ostracized as they are perceived to be unlucky or the source of evil, or they become the object of public humiliation and shame. Some even choose suicide over the torturous life and mental anguish caused by infertility. In other communities, infertile men and women are often denied proper death rights. For women in many countries, infertility may result in life-threatening physical as well as psychological violence. According to WHO, 2002, childless women are generally blamed for their infertility, despite the fact that male factors contribute to at least half of the cases of infertility around the world. In less developed parts of the world, being childless has more negative social, cultural, and emotional repercussions for women than, perhaps, any other non-life-threatening condition.
Infertility is a very frequent medical problem, around 15% of the couples worldwide face fertility issues. Both partners contribute equally to fertility and infertility, while the causes of infertility are very diverse including genetic, cytogenetic, and environmental. A number of genetic and cytogenetic causes have been identified for both male and female infertility. Genetic infertility, especially male infertility, is caused by chromosomal abnormalities which involve an abnormal number or structure of sex chromosomes or autosomes are found in approximately 5% of infertile men. Other than chromosomal enormities, single-gene mutations got much attention in recent years. These mutations were identified in genes known to be responsible for germ cell development or for other reproductive processes. Thousands of genes in these categories are expressed in human testes and ovaries, and any of them can potentially cause infertility when mutated.
Thousands of mouse models have been generated to study the underlying mechanisms of the candidate genes selected from human infertile subjects. These models represent defects at different steps of sperm or egg development. Also, several hundred mutations have been identified in men suffering reproductive defects and by analogy with the mouse model. However, a more or less similar number of mutations were identified in infertile women.
Moreover, the routine testing for male infertility causes is so far limited to Y-chromosome microdeletions testing using commercially available PCR-based kits. At the present time, more attention is being given to the structure of 3’UTRs which are targets for several types of small regulatory RNAs (srRNAs). Importantly, these targets may not be properly recognized when mutated. There is a huge gap between genetic research and its clinical application in infertility, thus reliable infertility biomarkers are urgently needed.
Recent advances in next-generation sequencing (NGS) technologies have brought a paradigm shift in how both rare and common human disorders are investigated. Genetic human reproductive disorders are no different from this, especially when studying familial infertility. The ability cost-effectively to generate genome-wide sequencing data with deep coverage in a short time frame is replacing approaches that focus on specific regions for gene discovery and clinical testing.
The aim of the current special article collection “Molecular and Cytogenetics Research Advancements in Human Reproduction” is to publish potential articles in the same field. Special focus is given to genes and their underlying mechanisms in human infertility (male/female) and their clinical applications. Studies related to male and female infertility (especially Spermatogenesis and Oogenesis) using advanced genetic and cytogenetic techniques, mouse models of the corresponding human phenotype are being considered for publication. Original Research papers, short Communications, Case Reports, and Review articles related to reproduction will be considered.