Genetics and Neurobiology of Down Syndrome

1st Edition - August 21, 2022
Author: Bani Bandana Ganguly
Language: English
Paperback ISBN:
9 7 8 - 0 - 3 2 3 - 9 0 4 5 6 - 8
eBook ISBN:
9 7 8 - 0 - 3 2 3 - 9 0 4 5 7 - 5

Genetics and Neurobiology of Down Syndrome provides a thorough review of the genetic etiology and mechanisms of trisomy 21. The author discusses the history of the syndrome, along… Read more

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Genetics and Neurobiology of Down Syndrome provides a thorough review of the genetic etiology and mechanisms of trisomy 21. The author discusses the history of the syndrome, along with the clinical features and health consequences, including physical features, cognitive, and neurologic symptoms. Genetic counseling on pros and cons of prenatal screening and testing and associated ethical issues are explored. This unique book also covers the societal and demographic aspects as well as the future direction of therapeutic development.

Cover image
Title page
Table of Contents
Copyright
An overview of this book
Preface
Chapter 1. Down syndrome: history and overview
1. History
2. Incidence
3. Sex ratio
4. Recurrence
5. What other names do people use for Down syndrome?
6. Can Down syndrome be inherited?
7. Secular trends and racial and ethnic variation
Chapter 2. Implications of trisomy 21 on congenital features and health aspects
1. Introduction
2. Phenotypic features and systemic complications of Down syndrome
3. Life-span of individuals with Down syndrome
4. Attention to be paid for health monitoring of Down syndrome
5. Fertility of Down syndrome
Chapter 3. Chromosomal etiology of Down syndrome: genesis of trisomy 21
1. Introduction
2. Chromosome 21
3. Genes of HSA21
Chapter 4. Possible factors contributing to chromosomal nondisjunction and formation of trisomic HSA21
1. Introduction
2. Factors that can cause nondisjunction of chromosomes
Chapter 5. Prevention of Down syndrome: genetic counseling, prenatal screening, testing, awareness, attitude, and socio-cultural and public health aspects
1. Introduction
2. Genetic counseling
3. Preconception screening and prenatal diagnosis
4. The attitude and awareness of the parents
5. Ethical aspects
6. Policies and guidelines
7. Public health point of view toward Down syndrome
8. Socio-cultural aspects of Down syndrome
Chapter 6. Gene-dosage imbalance due to trisomic HSA21 and genotype–phenotype association in Down syndrome
1. Introduction
2. Gene-dosage imbalance
3. Genotype–phenotype correlation
4. Transcriptomes of trisomy 21
5. Proteomes of trisomy 21
Chapter 7. Development of specific phenotypes and genetic consequences in Down syndrome: malformations in craniofacial and cardiac anatomy and development of leukemia and cognitive and learning deficits
1. Introduction
2. Genes of developmental stages
3. Trisomic segments in mouse models: genotyping of DS phenotypes
4. Craniofacial alterations in Down syndrome
5. Cardiac defects in Down syndrome
6. Cognitive development and learning and memory deficits
7. Genetics of leukemia in Down syndrome
8. Less of solid tumors in Down syndrome
9. Genes of motor control and hypotonia
10. Trisomic HSA21 genes and hypocomplementia
11. Concluding remarks
Chapter 8. Triplicated HSA21 genes and mtDNA on mitochondrial dysfunction: consequential changes in mitochondrial dynamics, biogenesis, bioenergetics, redox potential and Ca-homeostasis
1. Introduction
2. Mitochondrial dynamics and genome
3. Alterations in mitochondrial dynamics in DS
4. Regulation of mitochondrial bioenergetics in DS
5. Mitochrondrial dysfunction in DS: increased oxidative stress and inflammation
6. Triplicated HSA21 genes: implication on mitochondrial biogenesis and function
Chapter 9. Disarrayed mitochondrial function on pathobiology in Down syndrome and targeted therapeutics
1. Introduction
2. Diseases caused by mitochondrial dysfunction
3. Oxidative stress: an indication of adaptive response in DS
4. Clearance of dead cells: autophagy and mitophagy in DS
5. Targeted therapies for restoration of mitochondrial network in DS
6. Concluding remarks
Chapter 10. Gene-dosage imbalance and altered neurogenesis in Down syndrome
1. Introduction
2. Developmental consequences of brain in DS
3. Genetic implication of neurologic alterations in DS
4. Mitochondrial control of neural progenitor cells
5. Concluding remarks
Chapter 11. Imbalance in glutamatergic and GABAergic transmission in Down syndrome and therapeutic targets
1. Introduction
2. Neurotransmission in DS brain
3. The GABAergic receptors and ontogenic changes
4. Glutamatergic and GABAergic systems during development
5. GABA signaling in trisomic condition
6. Alterations of GABAergic circuits in DS model and neurodevelopmental disorders
7. Perspectives on therapeutics of GABAergic transmission
8. Concluding remarks
Chapter 12. Alzheimer disease and neuroinflammation in Down syndrome: Effects of gene dosage and therapeutics
1. Introduction
2. Preclinical changes of cognitive performance
3. Dementia in AD
4. Bio-markers of AD
5. Age-related consequences of AD pathogenesis
6. Genes involved in neuropathologic events in DSAD
7. Ubiquitinylation and proteasome system of AD development
8. Perspectives of neuroinflammation in DSAD
9. Genes of neuroinflammation in Down syndrome
10. Therapeutics of AD management in DS
11. Conclusion and future direction
Chapter 13. MicroRNAs and epigenetic signatures in Down syndrome
1. Introduction
2. MicroRNAs and biogenesis
3. HSA21-MicroRNAs in Down syndrome
4. Disease consequences of HSA21-miRNAs
5. Association of other non-HSA21 miRNAs with HSA21-miRNAs
6. Drug targets of miRNAs
7. Perspectives of microRNAs in prenatal diagnosis of DS
8. Spectrum of epigenetic expression in DS
9. DS phenotypes associated with epigenetic modulation
10. Therapeutic targets of epigenetic expression
11. Concluding remarks
Chapter 14. In vivo and in vitro models for research on Down syndrome
1. Introduction
2. Models of DS research
3. Mouse models in DS research
4. iPSCs with HSA21 as model in DS research
5. Organoids (iPSC-based) as chimeric models to study neurogenesis in DS
6. Technical challenges of DS modeling and engineering of genes of interest
7. HSA21 synteny studied on other models
8. Models for pharmaceutical developments for DS
9. Conclusion and perspectives
Index

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Genetics and Neurobiology of Down Syndrome

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Bani Bandana Ganguly