Genetic insights into the complexity of premature ovarian insufficiency.
Journal
Reproductive biology and endocrinology : RB&E
ISSN: 1477-7827
Titre abrégé: Reprod Biol Endocrinol
Pays: England
ID NLM: 101153627
Informations de publication
Date de publication:
02 Aug 2024
02 Aug 2024
Historique:
received:
25
04
2024
accepted:
29
06
2024
medline:
3
8
2024
pubmed:
3
8
2024
entrez:
2
8
2024
Statut:
epublish
Résumé
Premature Ovarian Insufficiency (POI) is a highly heterogeneous condition characterized by ovarian dysfunction in women occurring before the age of 40, representing a significant cause of female infertility. It manifests through primary or secondary amenorrhea. While more than half of POI cases are idiopathic, genetic factors play a pivotal role in all instances with known causes, contributing to approximately 20-25% of cases. This article comprehensively reviews the genetic factors associated with POI, delineating the primary candidate genes. The discussion delves into the intricate relationship between these genes and ovarian development, elucidating the functional consequences of diverse mutations to underscore the fundamental impact of genetic effects on POI. The identified genetic factors, encompassing gene mutations and chromosomal abnormalities, are systematically classified based on whether the resulting POI is syndromic or non-syndromic. Furthermore, this paper explores the genetic interplay between mitochondrial genes, such as Required for Meiotic Nuclear Division 1 homolog Gene (RMND1), Mitochondrial Ribosomal Protein S22 Gene (MRPS22), Leucine-rich Pentapeptide Repeat Gene (LRPPRC), and non-coding RNAs, including both microRNAs and Long non-coding RNAs, with POI. The insights provided serve to consolidate and enhance our understanding of the etiology of POI, contributing to establishing a theoretical foundation for diagnosing and treating POI patients, as well as for exploring the mechanisms underlying the disease.
Identifiants
pubmed: 39095891
doi: 10.1186/s12958-024-01254-2
pii: 10.1186/s12958-024-01254-2
doi:
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
94Subventions
Organisme : Innovation and Entrepreneurship Training Program for College Students
ID : S202410486359
Organisme : Innovation and Entrepreneurship Training Program for College Students
ID : S202410486359
Organisme : Innovation and Entrepreneurship Training Program for College Students
ID : S202410486359
Organisme : Innovation and Entrepreneurship Training Program for College Students
ID : S202410486359
Organisme : Innovation and Entrepreneurship Training Program for College Students
ID : S202410486359
Organisme : National Natural Science Foundation of China
ID : 82301817
Informations de copyright
© 2024. The Author(s).
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