Molecular and Genetic Bases of Infertility

A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Molecular Genetics and Genetic Diseases".

Deadline for manuscript submissions: 31 May 2024 | Viewed by 1738

Special Issue Editor


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Guest Editor
Department of Pediatrics, Division of Hematology/Oncology, University of California, San Francisco, CA 94143, USA
Interests: male Infertility; female Infertility; non-obstructive azoospermia; abnormal sperm morphology; MMAF

Special Issue Information

Dear Colleagues,

Abnormalities in any step of spermatogenesis and oogenesis can cause spermatogenic and oogenic disorders, leading to infertility in both genders. Infertility affects approximately 10–15% of human couples of reproductive age trying to conceive. Hormonal imbalance, immunological factors, previous surgeries, childhood mumps, varicocele, and genetic factors can cause human infertility. Genetic factors account for approximately 30–50% of cases, most of which are idiopathic.  Interestingly, the human testicular and follicular transcriptome comprises more than 30,000 transcripts, and theoretically, defects in any of these genes could lead to infertility. However,  the genetic basis of human infertility remains largely unknown, which limits the treatment or targeted therapeutic options.  This Special Issue covers all the molecular bases of spermatogenesis, oogenesis in mouse models, and genetic diagnosis of human infertility.

Dr. Ranjha Khan
Guest Editor

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Keywords

  • human infertility
  • spermatogenesis
  • oogenesis
  • non-obstructive azoospermia
  • MMAF
  • teratozoospermia
  • POI

Published Papers (1 paper)

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Research

11 pages, 1691 KiB  
Article
Exome Sequencing to Identify Novel Variants Associated with Secondary Amenorrhea and Premature Ovarian Insufficiency (POI) in Saudi Women
by Ahmed M. Almatrafi, Ali M. Hibshi and Sulman Basit
Biomedicines 2024, 12(4), 785; https://doi.org/10.3390/biomedicines12040785 - 03 Apr 2024
Viewed by 460
Abstract
Background and objectives: Post-pubertal disappearance of menstrual cycles (secondary amenorrhea) associated with premature follicular depletion is a heterogeneous condition. Patients with this disease have low levels of gonadal hormones and high levels of gonadotropins. It is one of the causes of female infertility [...] Read more.
Background and objectives: Post-pubertal disappearance of menstrual cycles (secondary amenorrhea) associated with premature follicular depletion is a heterogeneous condition. Patients with this disease have low levels of gonadal hormones and high levels of gonadotropins. It is one of the causes of female infertility and a strong genetic component is attributed as an underlying cause of this condition. Although variants in several genes have been associated with the condition, the cause of the disease remains undetermined in the vast majority of cases. Methodology and Materials: Ten Saudi married women experiencing secondary amenorrhea were referred to a center for genetics and inherited diseases for molecular investigation. A family-based study design was used. Intensive clinical examinations, including pelvic ultra-sonography (U/S) and biochemical evaluations, were carried out. Karyotypes were normal in all cases and polycystic ovarian syndrome (PCOS) was excluded by using Rotterdam consensus criteria. Patients’ DNA samples were whole-exome sequenced (WES). Bidirectional Sanger sequencing was then utilized to validate the identified candidate variants. The pathogenicity of detected variants was predicted using several types of bioinformatics software. Results: Most of the patients have a normal uterus with poor ovarian reserves. Exome sequence data analysis identified candidate variants in genes associated with POI in 60% of cases. Novel variants were identified in HS6ST1, MEIOB, GDF9, and BNC1 in POI-associated genes. Moreover, a homozygous variant was also identified in the MMRN1 gene. Interestingly, mutations in MMRN1 have never been associated with any human disease. The variants identified in this study were not present in 125 healthy Saudi individuals. Conclusions: WES is a powerful tool to identify the underlying variants in genetically heterogeneous diseases like secondary amenorrhea and POI. In this study, we identified six novel variants and expanded the genotype continuum of POI. Unravelling the genetic landscape of POI will help in genetic counselling, management, and early intervention. Full article
(This article belongs to the Special Issue Molecular and Genetic Bases of Infertility)
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