Article
Environmental Sciences
Waleed M. Aldahmash, Saleh H. Alwasel, Khaldoon Aljerian
Summary: Gestational diabetes mellitus poses significant risks to both the developing fetus and the mother, increasing the risk of maternal complications during pregnancy and later development of type 2 diabetes mellitus and cardiovascular disease. The study found that placental vasculopathies on both the maternal and fetal sides were significantly increased in the GDM group, indicating histopathological changes induced by GDM in the full-term placenta.
ENVIRONMENTAL SCIENCE AND POLLUTION RESEARCH
(2022)
Article
Multidisciplinary Sciences
Weijun Jiang, Jiajia Shi, Jingjie Zhao, Qiu Wang, Dan Cong, Fenghua Chen, Yu Zhang, Yuhan Liu, Junzheng Zhao, Qian Chen, Linhao Gu, Wenjia Zhou, Chenhang Wang, Zhaoyuan Fang, Shuhui Geng, Wei Xie, Luo-Nan Chen, Yang Yang, Yun Bai, Haodong Lin, Xiajun Li
Summary: ZFP57 is a master regulator of genomic imprinting, which controls the expression of target imprinted genes by maintaining differential DNA methylation at ICRs. Mutations in Zfp57 lead to allelic expression switches in target imprinted genes and genes associated with the NOTCH signaling pathway.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2021)
Article
Cell Biology
Aleksandra Lipka, Jan Pawel Jastrzebski, Lukasz Paukszto, Karol Gustaw Makowczenko, Elzbieta Lopienska-Biernat, Marek Gowkielewicz, Ewa Lepiarczyk, Marta Wiszpolska, Mariusz Krzysztof Majewski, Marta Majewska
Summary: Impaired fetal growth is a major cause of prematurity, stillbirth, and infant mortality. This study investigated non-coding RNAs in the placentas of male and female fetuses with FGR. Dysregulation of lncRNAs was found to affect vasculature in female placentas, while immune processes were more affected in male placentas.
Article
Biochemistry & Molecular Biology
Christian Giommi, Marta Lombo, Nina Montik, Michela Paolucci, Valentina Notarstefano, Giovanni Delli Carpini, Andrea Ciavattini, Antonio Ragusa, Francesca Maradonna, Elisabetta Giorgini, Oliana Carnevali
Summary: Gestational diabetes mellitus (GDM) and small-for-gestational-age (SGA) are metabolic-related diseases that can occur during pregnancy. This study investigated the changes in the placental chorionic villi (CVs) of GDM and SGA patients. The results showed higher levels of SOD-1 and CAT in GDM placentae, which may be related to the hyperglycemic environment. Lipid composition and structure of the placenta were altered in both pathologies, with SGA inducing lipid peroxidation and reducing collagen deposition in the CVs. The cannabinoid system does not seem to be involved in these two pathologies.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Cell Biology
Shogo Matoba, Chisayo Kozuka, Kento Miura, Kimiko Inoue, Mami Kumon, Ryoya Hayashi, Tatsuya Ohhata, Atsuo Ogura, Azusa Inoue
Summary: Genomic imprinting regulates monoallelic gene expression dependent on parental origin. The LOI of noncanonical imprinted gene Xist, which causes aberrant transient maternal X-chromosome inactivation (XCI) at preimplantation, greatly affects the development of Eed matKO embryos. Noncanonical imprinting also restrains placental overgrowth.
GENES & DEVELOPMENT
(2022)
Article
Cell Biology
Xiaotong Yang, Paula A. Benny, Elorri Cervera-Marzal, Biyu Wu, Cameron B. Lassiter, Joshua Astern, Lana X. Garmire
Summary: Variations in telomere length have been linked to aging, stress, and diseases. This study investigated the association between placental telomere length and preeclampsia. The results suggest that placental telomere length is not significantly different between severe preeclampsia cases and healthy controls, but it is negatively correlated with gestational age and influenced by race.
Article
Biochemistry & Molecular Biology
Konstantinos J. Bogias, Stephen M. Pederson, Shalem Leemaqz, Melanie D. Smith, Dale McAninch, Tanja Jankovic-Karasoulos, Dylan McCullough, Qianhui Wan, Tina Bianco-Miotto, James Breen, Claire T. Roberts
Summary: This study profiles transcript expression profiles in human placental tissue samples and finds that early placental development is mainly regulated by differential transcript expression (DTE) rather than differential gene expression (DGE). Transcript usage is likely a regulatory mechanism in early placentation.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Biochemistry & Molecular Biology
Rain Inno, Maris Laan
Summary: This study compared urinary, serum, and placental microRNAs in three healthy pregnant women. The results showed that the placenta had a higher enrichment of microRNAs compared to serum and urine. There were 153 microRNAs that were shared among all sample types, which may serve as candidate biomarkers for placental health. Urine samples contained specific microRNAs from chromosome 19 and chromosome 14 clusters, suggesting a selective filtering at the maternal-fetal interface. Urine can be used to monitor differentially expressed placenta-expressed microRNAs in pregnancy complications.
Article
Endocrinology & Metabolism
Anna Papadopoulou, Eirini Thymara, Eirini Maratou, George Kanellopoulos, Vasiliki Papaevangelou, Sophia Kalantaridou, Spyridon Kanellakis, Pinelopi Triantafyllidou, George Valsamakis, George Mastorakos
Summary: This study evaluated the expression of placental LRP5 and sclerostin in pregnancies with gestational diabetes mellitus (GDM) and investigated their associations with umbilical sclerostin concentrations and clinical outcomes. The results showed that placental sclerostin and LRP5 were significantly higher in GDM mothers compared with non-GDM mothers, and placental sclerostin expression was positively correlated with maternal pregestational body mass index and fasting glucose concentrations.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Health Care Sciences & Services
Arrigo Fruscalzo, Luigi Viola, Maria Orsaria, Stefania Marzinotto, Michela Bulfoni, Lorenza Driul, Ambrogio P. Londero, Laura Mariuzzi
Summary: This study found altered placental expression and staining pattern of STRA6 in pregnancies complicated by GDM compared to controls. These changes were associated with an altered expression pattern of several other genes involved in retinoid metabolism.
JOURNAL OF PERSONALIZED MEDICINE
(2021)
Article
Obstetrics & Gynecology
Helene Fjeldvik Peterson, Anne Eskild, Silje Sommerfelt, Vigdis Hillestad
Summary: This study compared placental size and placental size relative to fetal size in ongoing pregnancies and during delivery. The results showed that placental size is larger in ongoing pregnancies compared to during delivery, suggesting a decrease in placental size during labor and delivery, possibly due to blood transfer to the fetus.
ACTA OBSTETRICIA ET GYNECOLOGICA SCANDINAVICA
(2023)
Article
Genetics & Heredity
Emily Angiolini, Ionel Sandovici, Philip M. Coan, Graham J. Burton, Colin P. Sibley, Abigail L. Fowden, Miguel Constancia
Summary: Research using a mouse model found that the lack of maternal expression of the Phlda2 gene can affect placental passive permeability, leading to fetal catch-up growth, revealing an important role of the Phlda2 gene in regulating fetal growth.
Article
Environmental Sciences
Caiyun Ge, Ting Geng, Lin Cheng, Yuanzhen Zhang
Summary: Maternal exposure to PCB118 was found to have adverse effects on placental angiogenesis and fetal growth. PCB118 exposure caused decreased fetal body and placental weights, increased rates of intrauterine growth retardation (IUGR), impaired placental histology, decreased number of blood vessels, and anomalous mRNA expression of genes related to angiogenesis in the placenta.
ENVIRONMENTAL SCIENCE AND POLLUTION RESEARCH
(2022)
Article
Biochemistry & Molecular Biology
Fujia Chen, Xiaoping Fei, Weiqiang Zhu, Zhaofeng Zhang, Yupei Shen, Yanyan Mao, Qianxi Zhu, Jianhua Xu, Weijin Zhou, Min Li, Jing Du
Summary: The study investigated the association between altered methylation in the maternal placenta and hyperglycaemia, especially in the context of gestational diabetes mellitus (GDM). The findings revealed significant hypermethylation in the TRIM67 promoter region in the GDM group, which correlated positively with OGTT values and negatively with lipoprotein(a), suggesting a key role of DNA methylation levels in TRIM67 promoter region in the development of GDM.
Article
Developmental Biology
Minhui Lu, Amanda Nancy Sferruzzi-Perri
Summary: The placental mitochondria play a crucial role in determining placental physiology, fetal growth, and pregnancy outcome, and can be influenced by adverse gestational environments.
Article
Endocrinology & Metabolism
Maris Laan, Laura Kasak, Kestutis Timinskas, Marina Grigorova, Ceslovas Venclovas, Alexandre Renaux, Tom Lenaerts, Margus Punab
Summary: This study identified the genetic basis of partial gonadal dysgenesis (PGD) in a non-consanguineous family from Estonia, with some patients carrying the NR5A1 c.991-1G > C mutation. Segregation analysis showed incomplete penetrance and phenotypic variability among carriers of this mutation, with possible modulation by rare heterozygous variants inherited from the other parent. The study also identified a likely pathogenic variant SOS1 p.Y136H in another patient, supporting a distinct genetic cause for their condition.
CLINICAL ENDOCRINOLOGY
(2021)
Article
Developmental Biology
Triin Kikas, Maris Laan, Laura Kasak
Summary: This literature review provides an overview of the regulation of gene expression in the placenta and the contribution of genetic variation to this process. It highlights the limitations in studies of placental transcriptome and suggests the need for further research to map genetic variants shaping gene expression in different placental cell types across pregnancy stages.
Article
Genetics & Heredity
Jimmaline J. Hardy, Margot J. Wyrwoll, William Mcfadden, Agnieszka Malcher, Nadja Rotte, Nijole C. Pollock, Sarah Munyoki, Maria V. Veroli, Brendan J. Houston, Miguel J. Xavier, Laura Kasak, Margus Punab, Maris Laan, Sabine Kliesch, Peter Schlegel, Thomas Jaffe, Kathleen Hwang, Josip Vukina, Miguel A. Brieno-Enriquez, Kyle Orwig, Judith Yanowitz, Michael Buszczak, Joris A. Veltman, Manon Oud, Liina Nagirnaja, Marta Olszewska, Moira K. O'Bryan, Donald F. Conrad, Maciej Kurpisz, Frank Tuettelmann, Alexander N. Yatsenko
Summary: Male infertility impacts millions of couples, with the etiology largely unknown. A genomic study on spermatogenic failure identified potentially significant single-nucleotide variants in the GCNA gene. These variants disrupt protein domains critical for genome integrity, potentially causing germ-cell division arrest.
Article
Multidisciplinary Sciences
M. S. Oud, R. M. Smits, H. E. Smith, F. K. Mastrorosa, G. S. Holt, B. J. Houston, P. F. de Vries, B. K. S. Alobaidi, L. E. Batty, H. Ismail, J. Greenwood, H. Sheth, A. Mikulasova, G. D. N. Astuti, C. Gilissen, K. McEleny, H. Turner, J. Coxhead, S. Cockell, D. D. M. Braat, K. Fleischer, K. W. M. D'Hauwers, E. Schaafsma, L. Nagirnaja, D. F. Conrad, C. Friedrich, S. Kliesch, K. I. Aston, A. Riera-Escamilla, C. Krausz, C. Gonzaga-Jauregui, M. Santibanez-Koref, D. J. Elliott, L. E. L. M. Vissers, F. Tuettelmann, M. K. O'Bryan, L. Ramos, M. J. Xavier, G. W. van der Heijden, J. A. Veltman
Summary: This study examines the role of de novo mutations in severe male infertility. Through trio-based exome sequencing, the researchers identified a significant enrichment of loss-of-function de novo mutations in infertile men. They also identified a new candidate gene, RBM5, which is associated with male infertility. This study provides evidence for the importance of de novo mutations in male infertility and identifies potential genetic causes.
NATURE COMMUNICATIONS
(2022)
Article
Obstetrics & Gynecology
Laura Kasak, Kristiina Lillepea, Liina Nagirnaja, Kenneth Aston, Peter N. Schlegel, Joao Goncalves, Filipa Carvalho, Daniel Moreno-Mendoza, Kristian Almstrup, Michael L. Eisenberg, Keith A. Jarvi, Moira K. O'Bryan, Alexandra M. Lopes, Donald F. Conrad, Margus Punab, Maris Laan
Summary: This study analyzed the load, distribution, and clinical value of secondary findings identified in exome sequencing of patients with non-obstructive azoospermia (NOA). The findings showed that 3.6% of NOA cases carried medically actionable secondary findings, and 37% of patients with secondary findings had variants in genes linked to male infertility. Further research is needed to determine the characteristics of these secondary findings in the general population and NOA patients specifically.
HUMAN REPRODUCTION
(2022)
Article
Obstetrics & Gynecology
Ele Hanson, Kristiina Rull, Kaspar Ratnik, Pille Vaas, Pille Teesalu, Maris Laan
Summary: The study aimed to evaluate the value of screening for maternal serum sFlt-1/PlGF ratio in predicting the development of preeclampsia during the third trimester. The results showed that testing sFlt-1/PlGF ratio between 180-259 gestational days could detect approximately half of subsequent preeclampsia cases, with the highest detection rate observed at 225-238 gestational days.
JOURNAL OF PERINATAL MEDICINE
(2022)
Correction
Developmental Biology
Triin Kikas, Maris Laan, Laura Kasak
Article
Clinical Neurology
Norman Ilves, Rael Laugesaar, Kristiina Rull, Tuuli Metsvaht, Mare Lintrop, Maris Laan, Dagmar Loorits, Pille Kool, Pilvi Ilves
Summary: This study found that maternal bacterial infections may increase the risk of periventricular venous infarction in children, especially between gestational weeks 21 and 31.
JOURNAL OF CHILD NEUROLOGY
(2022)
Article
Cardiac & Cardiovascular Systems
Kaspar Ratnik, Kristiina Rull, Oliver Aasmets, Triin Kikas, Ele Hanson, Kalle Kisand, Krista Fischer, Maris Laan
Summary: Preeclampsia is a common pregnancy-related disease that has negative impacts on the health of both mothers and infants. A study has shown that a multiplex assay called 6PLEX can be used to develop prediction models for early pregnancy to detect preeclampsia. This model combines the measurement of multiple maternal serum biomarkers and other parameters, resulting in high accuracy.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2022)
Article
Developmental Biology
Brendan J. Houston, Alexandra M. Lopes, Maris Laan, Liina Nagirnaja, Anne E. O'Connor, D. Jo Merriner, Joseph Nguyen, Margus Punab, Antoni Riera-Escamilla, Csilla Krausz, Kenneth Ivan Aston, Donald F. Conrad, Moira K. O'Bryan
Summary: This study found that one of the genes associated with male infertility, DCAF12L1, does not have a significant impact on fertility in mice. This disparity may be due to differences in DCAF12 family members between mice and humans, or the presence of environmental factors in humans.
DEVELOPMENTAL BIOLOGY
(2022)
Article
Medicine, General & Internal
Ele Hanson, Inge Ringmets, Anne Kirss, Maris Laan, Kristiina Rull
Summary: The diagnosis rate of gestational diabetes mellitus is increasing year by year, and pregnant women with GDM risk factors are at risk of increased weight gain and delivering large-for-gestational-age (LGA) newborns, even with normal OGTT results.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Multidisciplinary Sciences
Liina Nagirnaja, Alexandra M. Lopes, Wu-Lin Charng, Brian Miller, Rytis Stakaitis, Ieva Golubickaite, Alexandra Stendahl, Tianpengcheng Luan, Corinna Friedrich, Eisa Mahyari, Eloise Fadial, Laura Kasak, Katinka Vigh-Conrad, Manon S. Oud, Miguel J. Xavier, Samuel R. Cheers, Emma R. James, Jingtao Guo, Timothy G. Jenkins, Antoni Riera-Escamilla, Alberto Barros, Filipa Carvalho, Susana Fernandes, Joao Goncalves, Christina A. Gurnett, Niels Jorgensen, Davor Jezek, Emily S. Jungheim, Sabine Kliesch, Robert McLachlan, Kenan R. Omurtag, Adrian Pilatz, Jay Sandlow, James Smith, Michael L. Eisenberg, James M. Hotaling, Keith A. Jarvi, Margus Punab, Ewa Rajpert-De Meyts, Douglas T. Carrell, Csilla Krausz, Maris Laan, Moira K. O'Bryan, Peter N. Schlegel, Frank Tuettelmann, Joris A. Veltman, Kristian Almstrup, Kenneth Aston, Donald F. Conrad
Summary: In this study, exome-sequencing was conducted on over 1000 clinically diagnosed NOA cases, and a potential recessive Mendelian cause was identified in 20% of the cases. Integration with single-cell RNA sequencing data revealed different molecular subforms of azoospermia genes, including previously unrecognized subforms. This study highlights the importance of studying NOA as an understudied Mendelian disorder and provides a rational basis for understanding the complex genetics of male infertility.
NATURE COMMUNICATIONS
(2022)
Article
Multidisciplinary Sciences
Triin Kikas, Anna Maria Punab, Laura Kasak, Olev Poolamets, Vladimir Vihljajev, Kristjan Pomm, Mario Reiman, Stanislav Tjagur, Paul Korrovits, Margus Punab, Maris Laan
Summary: This study analyzed the genome-wide CNV profile in men with SPGF and found that the proportion of CNVs >1 Mb was twice as high in SPGF patients compared to controls. Additionally, seven patients carried microdeletions or microduplications that were linked to severe congenital conditions.
SCIENTIFIC REPORTS
(2023)
Article
Biochemistry & Molecular Biology
Rain Inno, Maris Laan
Summary: This study compared urinary, serum, and placental microRNAs in three healthy pregnant women. The results showed that the placenta had a higher enrichment of microRNAs compared to serum and urine. There were 153 microRNAs that were shared among all sample types, which may serve as candidate biomarkers for placental health. Urine samples contained specific microRNAs from chromosome 19 and chromosome 14 clusters, suggesting a selective filtering at the maternal-fetal interface. Urine can be used to monitor differentially expressed placenta-expressed microRNAs in pregnancy complications.
Article
Biology
Ann-Kristin Dicke, Adrian Pilatz, Margot J. Wyrwoll, Margus Punab, Christian Ruckert, Liina Nagirnaja, Kenneth I. Aston, Donald F. Conrad, Sara Di Persio, Nina Neuhaus, Daniela Fietz, Maris Laan, Birgit Stallmeyer, Frank Tuettelmann
Summary: Genetic analysis of 1,655 men with NOA identifies four loss-of-function variants in the DDX3Y gene, suggesting its importance as a key gene in the AZFa region for the diagnosis of NOA.
COMMUNICATIONS BIOLOGY
(2023)