Endometrial Gene Expression: An Emerging Paradigm for Reproductive Disorders

230 Pages·2020·4.188 MB·English

by  Joanne Kwak-Kim

Endometrial Gene
Expression
An Emerging Paradigm for
Reproductive Disorders
Joanne Kwak-Kim
Editor
123
Endometrial Gene Expression
Joanne Kwak-Kim
Editor
Endometrial Gene
Expression
An Emerging Paradigm
for Reproductive Disorders
Editor
Joanne Kwak-Kim
Reproductive Medicine and Immunology
Clinical Sciences, Obstetrics and Gynecology, Microbiology and Immunology
Chicago Medical School, Rosalind Franklin University of Medicine and Science
Vernon Hills, IL
USA
ISBN 978-3-030-28583-8 ISBN 978-3-030-28584-5 (eBook)
https://doi.org/10.1007/978-3-030-28584-5
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Preface
Endometrial Gene Expression: An Emerging Paradigm for Reproductive Disorders
is a book devoted to endometrial gene expressions. This book is the first to focus on
endometrial gene expression and gynecological pathologies in terms of reproduc-
tion, endometriosis, and other gynecological diseases. A recent development in
molecular genetic technology opens a new era of endometrial assessment for vari-
ous gynecological conditions, including infertility.
Endometrium goes through structural changes cyclically under the hormonal
influence to accommodate the implantation of an embryo. When implantation does
not happen, menstruation occurs. Immune effectors in the endometrium dynami-
cally change their populations during the menstrual cycle and set up immune
responses with appropriate cytokine and chemokine milieus. The number of uterine
natural killer (uNK) cells increases significantly during the luteal phase and reaches
70% of decidual lymphocytes in early pregnancy. Natural killer (NK) cell traffick-
ing from the peripheral blood to the endometrium, as well as the proliferation of
uterine NK cells, contributes to the rapid accumulation of NK cells. Cytokines and
chemokines in the endometrium and decidua attract NK cell trafficking, and the
evaluation of chemoattractant in the endometrium may predict endometrial immune
responses and reproductive outcome. Due to recent advances in molecular genetic
technology, changes in the endometrium can be detected, and molecules related to
endometrial changes may serve as diagnostic and therapeutic markers for various
gynecological conditions.
Endometrial immune responses are important for trophoblast invasion and early
pregnancy. Indeed, dysregulated endometrial inflammatory immune responses are
associated with reproductive failures, such as recurrent pregnancy losses, repeated
implantation failures, endometriosis, and gynecological diseases with oncogenic
potential. New molecular genetic techniques have been introduced for the gene
expression studies, and the updated data have been accumulating. The time has
come for a book dedicated to endometrial gene expression and which reviews the
recent developments and findings in endometrial gene expression about reproduc-
tion and gynecological diseases.
v
vi Preface
Authoritative authors who are active in endometrial research and clinical medi-
cine were invited to submit their research and findings. The book begins with the
embryology of the uterus and explains the development and the structure of the
uterus with the commentary of the development of urogenital systems. Genes
directly regulate Mullerian duct development, and genes and pathways essential for
urogenital tract formation and maintenance are reviewed. The molecular genetic
mechanism underlying the physiology of menstruation and the development of
endometrium will provide insight into the uterine condition and diseases as well as
the adaptive value of menstruation in mammalian evolution.
Advances in molecular genetic technologies allow the high-throughput quantifi-
cation of the gene expressions in the endometrium. Commonly used techniques for
transcriptome profiling are systematically introduced for a better understanding of
new technologies and an application to clinical medicine. Transcriptomics using
high-throughput methods, such as microarray analysis, has been applied to the clini-
cal medicine for the evaluation of endometrial receptivity. This transcriptomic
approach has allowed identifying different mRNA expression patterns in the endo-
metrium during the whole menstrual cycle, revealing a specific signature for each
endometrial stage. Clinical application, predictability, and interpretation of the tran-
scriptomic approach are meticulously reviewed. Epigenetic regulatory mechanisms
such as DNA methylation; histone modification; noncoding RNA, for instance,
miRNA; genomic imprinting; and X-chromosome inactivation contribute to embryo
implantation, placental formation, organ formation, and fetal growth. Epigenetic
dysregulation may result in aberrant endometrial receptivity and reproductive fail-
ures, and it can be detected by various sequencing techniques. The importance of
precise timing of sampling and a well-defined category of the study population is
emphasized.
The endometrium goes through changes when it is infected by pathogens.
Therefore, gene expression studies to detect endometrial pathogens may predict
endometrial immune responses. Pathogens induce a significant burden in the endo-
metrium by changing immunophenotypes of endometrial immune effectors. HHV6
infection in the female genital tract has been implicated in female idiopathic infer-
tility, causing a specific modification of gene expression in both endometrium and
endometrial NK cells. In this book, HHV6 and endometrial changes, including gene
expression and immune effectors, are comprehensively reviewed.
Endometriosis is characterized by the presence of endometrial tissues in extra-
uterine locations. Recent studies demonstrated the microRNAs, which are stable
and specific modulators of gene expression, might serve as a biomarker for endome-
triosis. In the chapters reviewing endometrial gene expressions in women with
endometriosis, endometrial mRNA expression, miRNAs, and related pathways in
endometriosis are thoroughly reviewed by the world-renowned authorities in endo-
metriosis research. Lastly, the role of immuno-metabolism is explored by investi-
gating endometrial gene expression. The metabolic and nutritional impact on
endometrial gene expression and reproductive disorders are thoroughly reviewed.
Investigation of the endometrium is often limited due to the difficulties in sam-
pling and dynamic changes of the endometrium during the menstrual cycle. With
Preface vii
updated molecular genetic technology, various gene expressions can be assessed
even with the small quantity of samples. In this book, we aimed to deliver the most
updated, challenging, factual account of endometrial gene expressions. We hope
this book will help to facilitate the clinical translation of updated scientific knowl-
edge of endometrial gene expressions. Ultimately, we seek a readership enthusiastic
about understanding the scientific foundation of advanced technologies and exam-
ining critically the implication of the current data in clinical medicine.
Evaluation of genome will preage a new era of drug recovery in which therapy
will be tailored to aberration in DNA sequence.
Vernon Hills, IL, USA Joanne Kwak-Kim, MD
Contents
1 Endometrial Development and Its Fine Structure . . . . . . . . . . . . . . . . 1
Takeshi Kurita and Jumpei Terakawa
2 Molecular Biology Techniques for Endometrial Gene
Expression: Recent Technological Advances . . . . . . . . . . . . . . . . . . . . 33
Ke Ni and Lijia Ma
3 T Cell-Related Endometrial Gene Expression in Normal and
Complicated Pregnancies . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 51
Li Wu, Aihua Liao, Alice Gilman-Sachs, and Joanne Kwak-Kim
4 Role of Immunoregulatory Cytokine IL-15 in the Endometrium . . . 67
Svetlana Dambaeva and Kenneth D. Beaman
5 Endometrial Immune Profiling: An Emerging Paradigm for
Reproductive Disorders . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 75
Nathalie LéDée
6 Endometrial Receptivity by Endometrial Receptivity Analysis
(ERA) for Infertility . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 91
Maria Ruiz-Alonso, Jose Miravet-Valenciano, Pilar López, and
Carlos Simón
7 Endometrium Gene Expression and Epigenetic Regulation
in Reproductive Failure . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 103
Jin Huang, Ruizhe Zhang, Chi Chiu Wang, and Tin Chiu Li
8 Endometrial Gene Expression for HHV-6 . . . . . . . . . . . . . . . . . . . . . . 117
Carolyn Coulam
9 Infection and Endometrial Gene Expression: HHV-6
and Infertility . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 125
Roberta Rizzo
ix
x Contents
10 Endometrial Immune-Inflammatory Gene Signatures
in Endometriosis . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 141
Jessica E. Miller, Lindsey K. Symons, Ryan M. Marks, and
Chandrakant Tayade
11 Gene Expression in Endometriosis . . . . . . . . . . . . . . . . . . . . . . . . . . . . 159
Niraj Joshi, Ren-Wei Su, and Asgerally Fazleabas
12 MicroRNA and Endometriosis . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 181
Swati Agrawal and Christian M. Becker
13 Metabolic and Nutritional Impact on Endometrial Gene
Expression and Reproductive Disorder . . . . . . . . . . . . . . . . . . . . . . . . 199
Lianghui Diao, Songchen Cai, Jinli Ding, and Yong Zeng
Index . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 215
Contributors
Swati Agrawal, MD, MSc Department of Obstetrics and Gynecology, University
of Toronto, Toronto, ON, Canada
Kenneth  D.  Beaman, PhD Department of Microbiology and Immunology,
Chicago Medical School, RFUMS, North Chicago, IL, USA
Christian M. Becker, MD Endometriosis CaRe Centre, Nuffield Department
of Women’s and Reproductive Health, University of Oxford, Oxford, UK
Songchen Cai, MPhil Shenzhen Key Laboratory for Reproductive Immunology of
Peri- implantation, Shenzhen Zhongshan Institute for Reproduction and Genetics,
Shenzhen Zhongshan Urology Hospital, Shenzhen, China
Carolyn  Coulam, MD Clinical Immunology Laboratory, Rosalind Franklin
University of Medicine and Science, North Chicago, IL, USA
Svetlana Dambaeva, MD, PhD Department of Microbiology and Immunology,
Chicago Medical School, RFUMS, North Chicago, IL, USA
Lianghui Diao, PhD Shenzhen Key Laboratory for Reproductive Immunology of
Peri- implantation, Shenzhen Zhongshan Institute for Reproduction and Genetics,
Shenzhen Zhongshan Urology Hospital, Shenzhen, China
Jinli Ding, MSc Reproductive Medical Center, Hubei Clinic Research Center for
Assisted Reproductive Technology and Embryonic Development, Renmin Hospital
of Wuhan University, Wuhan, China
Asgerally  Fazleabas, PhD Department of Obstetrics, Gynecology and
Reproductive Biology, College of Human Medicine, Michigan State University,
Grand Rapids, MI, USA
Alice  Gilman-Sachs, PhD Microbiology and Immunology, Chicago Medical
School, School of Graduate and Postdoctoral Studies, Rosalind Franklin University
of Medicine and Science, North Chicago, IL, USA
xi