Down syndrome : from understanding the neurobiology to therapy / edited by Mara Dierssen, Rafael De La Torre.

Format:

Book

Contributor:

Dierssen, Mara.

Torre, Rafael de la.

Series:

Progress in brain research ; v. 197.

Progress in brain research, 0079-6123 ; v. 197

Language:

English

Subjects (All):

Down syndrome.

Developmental neurobiology.

Physical Description:

1 online resource (273 p.)

Edition:

1st ed.

Place of Publication:

Amsterdam : Elsevier, 2012.

Language Note:

English

Summary:

Down syndrome (DS) is the most common example of neurogenetic aneuploid disorder leading to mental retardation. In most cases, DS results from an extra copy of chromosome 21 (HSA21) producing deregulated gene expression in brain that gives raise to subnormal intellectual functioning. The topic of this volume is of broad interest for the neuroscience community, because it tackles the concept of neurogenomics, that is, how the genome as a whole contributes to a neurodevelopmental cognitive disorders, such as DS, and thus to the development, structure and function of the nervous system. <

Contents:

Front Cover; Down Syndrome: From Understanding the Neurobiology to Therapy; Copyright; List of Contributors; Preface; Contents; Chapter 1: Therapeutic approaches in the improvement of cognitive performance in Down syndrome: past, present, and future; Introduction; Clinical trials in DS patients related with drugs used for the treatment of AD; Cholinergic neurotransmission; Acetyl-l-carnitine; Nicotine; Inhibitors of acetylcholinesterase; Glutamatergic neurotransmission; NMDA antagonists; GABAergic neurotransmission

Clinical trials in DS patients with miscellaneous drugs: Vitamins and mineral supplements, piracetam, and growth hormoneSupplementation with folate, antioxidants, vitamins, and minerals; Alternative therapeutic strategies in DS: Normalizing the expression levels or function of candidate molecules; Dyrk1A overexpression: Intellectual disability and AD; Normalization of Dyrk1A function as a therapeutic approach to improve cognitive performance and decelerate AD like progression; Additional therapeutic contribution of EGCG over AD pathogenesis

Contribution of EGCG in improving cognitive performance in DS: Preliminary results from a pilot studyLimitations of past clinical studies and future perspectives; Concluding remarks; Acknowledgments; References; Chapter 2: Genomic determinants in the phenotypic variability of Down syndrome; Introduction; Human chromosome 21; Gene content; GC content; Conserved noncoding regions; Other HSA21 features; Comparison with other species; Genomic variability; Gene expression; Gene expression studies; Gene expression variation; Allele-specific expression; Protein levels; Molecular mechanisms

ConclusionAcknowledgments; References; Chapter 3: Intellectual disabilities, neuronal posttranscriptional RNA metabolism, and RNA-binding proteins: three actors for...; Introduction; Direct role on RNA metabolism. The RNA-binding proteins; FMRP-Fragile X mental retardation protein; FXRP-Fragile X related proteins: FXR1P and FXR2P; FMR2P-FRAXE mental retardation 2 protein; PQBP1-POLYQ-binding protein 1; UPF3B-Regulator of nonsense transcript homolog B; VCX-Variable charges X-linked family of proteins; Summary; Indirect role on RNA metabolism; DYRK1A-DUAL specific tyrosine regulated kinase 1A

CDKL5-Cyclin-dependent kinase-like-5Summary; Closing remarks; Acknowledgments; References; Chapter 4: Aberrant epigenetic landscape in intellectual disability; General introduction to epigenetics; DNA methylation; Histone modifications; Cross talk; Epigenetic involvement in brain functions; Epigenetic alterations in several intellectual disability; Alpha-thalassemia/mental retardation, X-linked syndrome; Rett syndrome; Rubinstein-Taybi syndrome; Epigenetic alterations in Down syndrome; Epigenetic drugs and treatment; References; Chapter 5: Pathways to cognitive deficits in Down syndrome

Introduction

Notes:

Two columns to the page.

Includes bibliographical references and index.

ISBN:

9786613611420

9781280581649

1280581646

9780444543004

0444543007

OCLC:

793511146