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Genetic Basis for Respiratory Control Disorders

:	Claude Gaultier
:	Claude Gaultier
:	Genetic Basis for Respiratory Control Disorders
:	Springer-Verlag
:	9780387707655
:	1
:	CHF 132.90
:

:	Zoologie
:	English

:	324
:	Wasserzeichen
:	PC/MAC/eReader/Tablet
:	PDF

Bringing together top-level contributions on all aspects of the subject, this book provides an overview of the recent advances in the genetics of respiratory control in health and disease. It also shows how combined studies in humans and mouse models have helped to improve our understanding of the mechanisms that underlie genetically determined respiratory control disorders with the goal of developing new therapeutic interventions.

	Introduction	6
	Preface	7
	Contributors	9
	Contents	16
	Abbreviations	21
	1. Respiratory control disorders: from genes to patients and back	28
	1.1 Introduction	28
	1.2 Effect of sleep on breathing	29
	1.3 Diagnostic approaches to the patient with suspected abnormalities in respiratory control	30
	1.4 Potential consequences of delayed diagnosis and treatment	31
	1.5 Where do we go from here?	31
	1.6 Conclusion	32
	Acknowledgements	32
	References	33
	2. Hereditary aspects of respiratory control in health and disease in humans	36
	2.1 Introduction	36
	2.2 Inter-individual variation in human ventilatory control	36
	2.3 Population and species differences	38
	2.4 Familial clusters	39
	2.5 Genetics vs. environment	43
	2.6 Locus of hereditary effects	43
	2.7 Conclusion	47
	References	47
	3. Phox2b and the homeostatic brain	51
	3.1 Introduction	51
	3.2 Expression pattern of Phox2 genes	51
	3.3 Gross phenotype of mouse mutants for Phox2 genes	56
	3.4 Cellular functions of Phox2 genes	59
	3.5 Ancestry of the homeostatic brain	64
	Conclusion	64
	References	64
	4. Congenital central hypoventilation syndrome: from patients to gene discovery	71
	4.1 Introduction	71
	4.2 Clinical presentation of CCHS	72
	4.3 Genetic mutations in CCHS	76
	4.4 Phenotype-genotype correlations	77
	4.5 Conclusion	78
	References	78
	5. Structural and functional brain abnormalities in Congenital Central Hypoventilation Syndrome	82
	5.1 Introduction	82
	5.2 Structural injury and functional deficits in CCHS	83
	5.3 Imaging findings	84
	5.4 Cardiovascular control deficits	89
	5.5 Potential mechanisms in injury	90
	5.6 Conclusion	91
	Acknowledgements	92
	References	92
	6. In vitro studies of PHOX2B gene mutations in congenital central hypoventilation syndrome	96
	6.1 Introduction	96
	6.2 PHOX2B polyalanine expansions	98
	6.3 PHOX2B frameshift mutations	102
	6.4 Conclusion	104
	References	106
	7. Sudden infant death syndrome: study of genes pertinent to cardiorespiratory and autonomic regulation	109
	7.1 Introduction	109
	7.2 Cardiac channelopathy genes in SIDS	110
	7.3 Serotonergic system genes in SIDS	112
	7.4 Autonomic Nervous System (ANS) genes in SIDS	115
	7.5 Nicotine metabolizing genes in SIDS	119
	7.6 Clinical significance	121
	7.7 Conclusion and directions for future research on genetic factors in SIDS	125
	References	125
	8. The genetic basis for obstructive sleep apnea: what role for variation in respiratory control?	134
	8.1 Introduction	134
	8.2 OSA: Definition and health impact	134
	8.3 OSA: Evidence for a familial basis	136
	8.4 Genetic etiology-risk factors and their use as intermediate phenotypes	138
	8.5 Ventilatory control as an intermediate OSA risk factor	139
	8.6 Evidence for genetically determined ventilatory control abnormalities in familial OSA	145
	8.7 Candidate genes for OSA that may operate through ventilatory control	146
	8.8 Inferences from other conditions which involve ventilatory control deficits	148
	8.9 Studies from animals	149
	8.10 Pleiotropy	149
	8.11 Conclusion	149
	Acknowledgements	150
	References	150
	9. Apnea and irregular breathing in animal models: a physiogenomic approach	159
	9.1 Introduction	159
	9.2 Measuring ventilatory behavior	160
	9.3 Defining apnea and ventilatory irregularity	162
	9.4 Models of apnea	167
	9.5 Model of recurrent apneas	168
	9.6 Conclusion	170
	References	170
	10. Genetic determinants of respiratory phenotypes in mice	174
	10.1 Introduction	174
	10.2 Experimental methods and design	177
	10.3 Observations and results	179
	10.4 Significance of genetic determinants	184
	10.5 Conclusion	185
	References	186
	11. Genes and development of respiratory rhythm generation	190
	11.1 Introduction	190
	11.2 Primordial embryonic rhythm in the neural tube	192
	11.3 Parafacial rhythm generators : induction requires Krox20 in r3 and Hoxa1 in r4	194
	11.4 Onset of the respiratory rhythm generation	196
	11.5 Neurotrophic control of breathing	199
	11.6 Brainstem modulatory controls of breathing	201
	11.7 Conclusion	202
	Acknowledgements	203
	References	203
	12. Transcription factor control of central respiratory neuron development	211
	12.1 Introduction	211
	12.2 Brainstem populations of neurons participating in central breathing control	212
	12.3 Mouse mutants of transcription factors governing development of respiratory neurons and breathing control	215
	12.4. Conclusion	232
	References	233
	13. Lessons from mutant newborn mice with respiratory control deficits	242
	13.1 In