Genetics and etiology of Down syndrome

340 Pages·2011·11.294 MB·English

by  Subrata Day

GENETICS AND ETIOLOGY
OF DOWN SYNDROME

Edited by Subrata Dey
Genetics and Etiology of Down Syndrome
Edited by Subrata Dey

Published by InTech
Janeza Trdine 9, 51000 Rijeka, Croatia

Copyright © 2011 InTech
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Technical Editor Teodora Smiljanic
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First published August, 2011
Printed in Croatia

A free online edition of this book is available at www.intechopen.com
Additional hard copies can be obtained from [email protected]

Genetics and Etiology of Down Syndrome, Edited by Subrata Dey
p. cm.
ISBN 978-953-307-631-7
free online editions of InTech
Books and Journals can be found at
www.intechopen.com

Contents

Preface IX
Part 1 Genetics and Etiology 1
Chapter 1 Genetics of Down Syndrome 3
Thomas Eggermann and Gesa Schwanitz
Chapter 2 Etiology of Down Syndrome:
Risk of Advanced Maternal Age
and Altered Meiotic Recombination
for Chromosome 21 Nondisjunction 23
Subrata Kumar Dey and Sujoy Ghosh
Chapter 3 Combinatorial Gene Effects
on the Neural Progenitor Pool
in Down Syndrome 37
Jie Lu and Volney Sheen
Chapter 4 Down Syndrome: A Complex
and Interactive Genetic Disorder 65
Samantha L. Deitz, Joshua D. Blazek,
Jeffrey P. Solzak and Randall J. Roper
Chapter 5 Abnormal Folate Metabolism
and Maternal Risk for Down Syndrome 97
Érika Cristina Pavarino, Bruna Lancia Zampieri,
Joice Matos Biselli and Eny Maria Goloni Bertollo
Chapter 6 Down Syndrome Expressed Protein;
DSCR-1 Deters Cancer and Septic Inflammation 121
Takashi Minami
Chapter 7 Down Syndrome and Vascular Disease:
DSCR1 and NFAT Signaling 137
Monica Y. Lee and Brian R. Wamhoff
VI Contents

Part 2 Down Syndrome Models 157
Chapter 8 Down Syndrome Model of Alzheimer’s Disease:
Beyond Trisomy 21Nondisjunction 159
Antoneta Granic and Huntington Potter
Chapter 9 Deficiency of Adult Neurogenesis
in the Ts65Dn Mouse Model of Down Syndrome 177
Pavel V. Belichenko and Alexander M. Kleschevnikov
Part 3 Neurologic, Urologic, Dental and Allergic Disorders 193
Chapter 10 Dermatological Manifestations of Down Syndrome 195
Dominguez-Cruz JJ and Bueno Delgado MA
Chapter 11 Down Syndrome and Periodontal Disease 209
Ahmed Khocht
Chapter 12 Dysfunctional Voiding of Non-Neurogenic
Neurogenic Bladder: A Urological Disorder
Associated with Down Syndrome 231
Narihito Seki and Nouval Shahab
Chapter 13 Down Syndrome and Epilepsy 241
A. Nascimento and C. Ortez-González
Chapter 14 Endocrine and Autonomic Nervous Adaptations
during Physical Exercise in Down Syndrome 259
Véronique ~ Aurélie Bricout
Chapter 15 Language and Visuospatial Abilities in Down Syndrome
Phenotype: A Cognitive Neuroscience Perspective 275
George Grouios and Antonia Ypsilanti
Part 4 Prenatal Diagnosis and Screening 287
Chapter 16 Prenatal Diagnosis of Down Syndrome 289
Myungshin Kim, Jong Chul Shin and In Yang Park
Chapter 17 First Trimester Screening for Trisomy 21
by Maternal Age, Nuchal Translucency
and Fetal Nasal Bone in Unselected Pregnancies 301
Ksenija Gersak, Maja Pohar-Perme and Darija M. Strah
Chapter 18 Noninvasive Prenatal Nucleic Acid
Diagnostics of Down Syndrome 313
Radek Vodicka, Radek Vrtel, Jana Böhmova, Romana
Kratochvilova, Ladislav Dusek, Ishraq Dhaifalah and Jiri Santavy

Preface

This book provides the recent developments and advances in research on Down
syndrome. It also covers a wide range of topics, including investigations on
neurologic, urologic, dental and allergic disorders in Down syndrome. Chromosomal
aneuploidy is the leading cause of fetal death in our species and the information about
chromosomal nondisjunction in man largely comes from studies in trisomy 21 or
Down syndrome, the most frequent of the autosomal trisomies in liveborns. The cause
of nondisjunction of chromosome 21 remains largely unknown. Accurate
investigations on meiotic nondisjunction have been made possible in recent years by
the development and utilization of microsatellite markers. Although several
hypotheses have been put forward, it is still unclear as to whether particular gene loci
on chromosome 21 are sufficient to cause Down syndrome and its associated features.
For over two decades trisomy 21 has represented a prototype disorder for the study of
human aneuploidy and copy-number variation, but the genes responsible for most
Down syndrome phenotypes are still unknown. The genetic mechanism by which
wide variability in the phenotypes arise is not understood, additional complexity may
exist due to possible epigenetic changes that may act differently on Down syndrome.
Consequently, gene-disease links have often been based on indirect evidence from
cellular or animal models. Numerous mouse models with features reminiscent of those
seen in individuals with Down syndrome have been produced and studied in some
depth, and these have added considerable insight into possible genetic mechanisms by
which trisomy 21 leads to Down syndrome.
The book is organized into four sections. All sections include chapters on recent
advances in Down syndrome research.
Section I deals with our present knowledge on the genetics and etiology of Down
syndrome.
Section II discusses the utility of using mouse model for in depth study of Down
syndrome. Down syndrome could be used as model for understanding the genetics of
Alzheimer’s disease.
Section III describes the etiology and clinical aspects of some common disorders of
Down syndrome patients such as neurologic, urologic, dental and allergic disorders.
X Preface

Section IV focuses on prenatal diagnosis and screening of Down syndrome.
This book provides a concise yet comprehensive source of current information on
Down syndrome. Research workers, scientists, medical graduates and paediatricians
will find it an excellent source for reference and review.
Acknowledgements
The editor wants to acknowledge the superb assistance of staff members and
management of InTech Publisher. In particular, Ms. Romina Krebel for her co-
ordination and editorial assistance. We are grateful to all contributing authors and
scientists who made this book possible by providing valuable research and review
papers.

Subrata Dey
Salt Lake City, Kolkata,
India