Article
Endocrinology & Metabolism
Sinead M. McGlacken-Byrne, Polona Le Quesne Stabej, Ignacio Del Valle, Louise Ocaka, Andrey Gagunashvili, Berta Crespo, Nadjeda Moreno, Chela James, Chiara Bacchelli, Mehul T. Dattani, Hywel J. Williams, Dan Kelberman, John C. Achermann, Gerard S. Conway
Summary: In this study, a genetic mechanism underlying early-onset POI in two sisters was identified. The disruption of the ZSWIM7 gene was found to be associated with POI in humans and may play an important role in human homologous recombination. This study expands the range of genes associated with POI in women.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Article
Cell Biology
Danni Wang, Hongzheng Sun, Jiaqi Zhang, Zhenyue Huang, Congyang Li, Longsen Han, Yongan Xin, Shoubin Tang, Juan Ge, Qiang Wang
Summary: FKBP25 plays a crucial role in oocyte maturation by affecting spindle assembly, chromosome alignment, and kinetochore-microtubule attachment. Depletion of FKBP25 results in elevated aneuploidy incidence in oocytes. Reduced levels of FKBP25 protein in old oocytes can be partly rescued by ectopic expression of FKBP25, which is also found to have phosphorylation at serine 163 affecting its action on meiotic maturation.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Genetics & Heredity
Sandrine Caburet, Abdelkader Heddar, Elodie Dardillac, Helene Creux, Marie Lambert, Sebastien Messiaen, Sophie Tourpin, Gabriel Livera, Bernard S. Lopez, Micheline Misrahi
Summary: This study reports a novel phenotype of isolated POI with a BRCA2 variant in a consanguineous Turkish family. Functional studies revealed that BRCA2 is expressed in human fetal ovaries and the patient did not exhibit cancer predisposition or FA traits. The findings extend the phenotype of BRCA2 biallelic alterations to fully isolated POI, impacting the management and genetic counseling of POI patients.
JOURNAL OF MEDICAL GENETICS
(2021)
Review
Cell Biology
Chengzi Huang, Ting Guo, Yingying Qin
Summary: POI is the early depletion of ovarian function before 40 years of age due to various causes, including genetic factors and unknown reasons. Advances in next-generation sequencing have expanded the genetic spectrum of POI, particularly in identifying genes related to meiosis and DNA repair. Understanding the genetic architecture of POI can help predict risks, protect ovarian function, and intervene early for affected women.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Medicine, Research & Experimental
Sinead M. McGlacken-Byrne, Ignacio del Valle, Polona Le Quesne Stabej, Laura Bellutti, Luz Garcia-Alonso, Louise A. Ocaka, Miho Ishida, Jenifer P. Suntharalingham, Andrey Gagunashvili, Olumide K. Ogunbiyi, Talisa Mistry, Federica Buonocore, Berta Crespo, Nadjeda Moreno, Paola Niola, Tony Brooks, Caroline E. Brain, Mehul T. Dattani, Daniel Kelberman, Roser Vento-Tormo, Carlos F. Lagos, Gabriel Livera, Gerard S. Conway, John C. Achermann
Summary: Primary ovarian insufficiency (POI) affects 1% of women and is associated with significant medical and psychosocial consequences. Recent research has identified pathogenic variants in the YTHDC2 gene that are linked to early-onset POI, highlighting the importance of this gene in human meiosis regulation.
Article
Medicine, General & Internal
Anders Hviid, Emilia Myrup Thiesson
Summary: This cohort study found no association between HPV vaccination and primary ovarian insufficiency. While the risk of primary ovarian insufficiency did not significantly increase after vaccination, the possibility of a clinically relevant increase in diagnosis rate cannot be ruled out due to the rarity of the outcome in this study.
Article
Endocrinology & Metabolism
Zhongkang Li, Mingle Zhang, Jiahua Zheng, Yanpeng Tian, Huihui Zhang, Yi Tan, Qian Li, Jingkun Zhang, Xianghua Huang
Summary: This study demonstrated that transplantation of hUCMSC-Exos can effectively promote ovarian recovery in POI, with the proliferation of ovarian cells being regulated by the Hippo pathway.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Article
Endocrinology & Metabolism
Lili Chen, Bo Ding, Liju Wu, Jialing Qiu, Qiong Li, Zheng Ye, Jinmei Yang
Summary: Natural ovarian ageing is significantly correlated with immune cell infiltration and activation of inflammation-related signaling pathways, with inflammation levels reaching a maximum during early ovarian ageing and then gradually decreasing.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Medicine, General & Internal
Abdelkader Heddar, Cagri Ogur, Sabrina Da Costa, Ines Braham, Line Billaud-Rist, Necati Findikli, Claire Beneteau, Rachel Reynaud, Khaled Mahmoud, Stephanie Legrand, Maud Marchand, Isabelle Cedrin-Durnerin, Adele Cantalloube, Maeliss Peigne, Marion Bretault, Benedicte Dagher-Hayeck, Sandrine Perol, Celine Droumaguet, Sabri Cavkaytar, Carole Nicolas-Bonne, Hanen Elloumi, Mohamed Khrouf, Charlotte Rougier-LeMasle, Melanie Fradin, Elsa Le Boette, Perrine Luigi, Anne-Marie Guerrot, Emmanuelle Ginglinger, Amandine Zampa, Anais Fauconnier, Nathalie Auger, Francoise Paris, Elise Brischoux-Boucher, Christelle Cabrol, Aurore Brun, Laura Guyon, Melanie Berard, Axelle Riviere, Nicolas Gruchy, Sylvie Odent, Brigitte Gilbert-Dussardier, Bertrand Isidor, Juliette Piard, Laetitia Lambert, Samir Hamamah, Anne Marie Guedj, Aude Brac de la Perriere, Herve Fernandez, Marie-Laure Raffin-Sanson, Michel Polak, Helene Letur, Sylvie Epelboin, Genevieve Plu-Bureau, Slawomir Wolczynski, Sylvie Hieronimus, Kristiina Aittomaki, Sophie Catteau-Jonard, Micheline Misrahi
Summary: The study on a large cohort of POI patients identified a high yield of clinical genetic diagnosis (29.3%) and discovered strong evidence of pathogenicity for nine genes not previously related to a Mendelian phenotype or POI. New pathways were also identified, providing future therapeutic targets.
Article
Cell Biology
Xin Jin, Kehan Wang, Lu Wang, Wenwen Liu, Chi Zhang, Yuexin Qiu, Wei Liu, Huiyu Zhang, Dong Zhang, Zhixia Yang, Tinghe Wu, Jing Li
Summary: The study reveals that induction of mitophagy in oocytes can activate the PRKN-mediated pathway and block meiosis at metaphase I stage, with the regulatory role of RAB7 in rescuing observed defects. In aged GV oocytes, increased PINK1 and PRKN levels, along with decreased RAB7, lead to defective mitophagosome formation and impaired oocyte quality. Treatment with the RAB7 activator ML098 shows promise in ameliorating age-related deterioration of oocyte quality.
Article
Biochemistry & Molecular Biology
Yulia Gryaznova, Leonor Keating, Sandra A. Touati, Damien Cladiere, Warif El Yakoubi, Eulalie Buffin, Katja Wassmann
Summary: This research explores the separation of sister kinetochores and removal of cohesin during meiosis, revealing that the initial separation of sister kinetochores actually occurs during meiosis I, not meiosis II as previously thought. This indicates that whether centromeric cohesin is removed or not is determined by the kinetochore structure prior to meiosis II.
Article
Endocrinology & Metabolism
Elinor C. Vogt, Lars Breivik, Ellen C. Royrvik, Marianne Grytaas, Eystein S. Husebye, Marianne Oksnes
Summary: This study found that 10.2% of women with autoimmune Addison's disease (AAD) have Primary Ovarian Insufficiency (POI), with approximately one-third developing POI before the age of 30. Autoantibodies against side-chain cleavage enzyme (SCC) had a 96% negative predictive value for POI. Additionally, the use of hormone replacement therapy (HRT) was higher in women with AAD compared to the general population.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)
Review
Biochemistry & Molecular Biology
Konstantinos Valtetsiotis, Georgios Valsamakis, Evangelia Charmandari, Nikolaos F. Vlahos
Summary: Female infertility and reproduction issues are becoming more prevalent, leading to delayed family planning. This review examines potential metabolic mechanisms involved in ovarian aging and explores new medical treatments, including stem cell procedures, caloric restriction, hyperbaric oxygen treatment, and mitochondrial transfer. Understanding the connection between metabolism and reproduction could significantly advance the prevention of ovarian aging and extend female fertility. Overall, the field of ovarian aging has the potential to expand the fertility window and reduce the reliance on artificial reproductive techniques.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Cell Biology
Wei Ma, Jingwen Zhou, Jian Chen, Antony M. Carr, Yoshinori Watanabe
Summary: The study elucidates the molecular mechanisms of Moa1 in regulating centromeric cohesion protection by associating with Plo1 kinase to control Rec8 phosphorylation, enhancing the activity of PP2A associated with Sgo1, and preventing the cleavage of Rec8 by separase through dephosphorylation at another site.
GENES & DEVELOPMENT
(2021)
Review
Biochemistry & Molecular Biology
Fengguo Zhang, Mengfei Liu, Jinmin Gao
Summary: Around 10% of reproductive-aged couples suffer from infertility, but the genetic causes of human infertility are largely unknown. Errors in meiosis, the process that produces gametes for fertilization, are associated with infertility in both males and females. Successful meiosis relies on the assembly of the synaptonemal complex (SC) between paired homologous chromosomes. Mutations in SC coding genes have been linked to human infertility, and complex interaction networks associated with SC components have been identified. Further investigations are needed to determine the role of genetic variations and environmental factors in human infertility.
INTERNATIONAL JOURNAL OF BIOLOGICAL SCIENCES
(2022)