Genetics of dyslipidemia:
Saved in:
| Main Author: | |
|---|---|
| Format: | Book |
| Language: | English |
| Published: |
Boston [u.a.]
Kluwer
2001
|
| Series: | Basic science for the cardiologist
7 |
| Subjects: | |
| Online Access: | Inhaltsverzeichnis |
| Item Description: | Includes bibliographical references (S. 223-310) and index |
| Physical Description: | IX, 315 S. Ill. : 22 cm |
| ISBN: | 0792373626 |
Staff View
MARC
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| 490 | 1 | |a Basic science for the cardiologist |v 7 | |
| 500 | |a Includes bibliographical references (S. 223-310) and index | ||
| 650 | 4 | |a Hyperlipidemias |x genetics | |
| 650 | 4 | |a Lipids |x Metabolism |x Disorders | |
| 650 | 4 | |a Lipoproteins |x metabolism | |
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Record in the Search Index
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| adam_text | GENETICS OF DYSLIPIDEMIA
PREFACE xi
I THE METABOLISM OF LIPOPROTEINS 1
1.1 Historical Landmarks 2
1.1.1 Cholesterol: a « Janus Faced » molecule 2
1.1.2 The pathological descriptions of the 19lh century 5
1.1.3 From lipido proteinic « cenapses » to apolipoproteins 6
1.1.4 The concept of molecular disease 7
1.2 Lipids are essential components for living cells 9
1.2.1 Fatty acids derivatives 9
1.2.2 Isoprenoid derivatives 10
1.3 Lipoproteins: soluble carriers of lipids in extracellular spaces 14
1.3.1 Structure and functions of lipoproteins 14
1.3.2 Lipoproteins accross the evolution of living species 16
1.4 The Metabolism of Lipoproteins 21
1.4.1 The general architecture of lipoprotein metabolism 23
+ The Exogenous Pathway 23
+ The Endogenous Pathway 24
+ The Reverse Pathway 25
1.4.2 Regulations of Lipoprotein Metabolism 26
+ By exogenous sources of energy 26
+ By endogenous sensors of energy 27
1.5 Lipids and Atherosclerosis: The Causal Link 29
+ Pathological and biological evidence 29
+ Epidemiological and clinical evidence 31
vi
1.6 Heterogeneity of Dyslipidemia 34
1.6.1 The phenotypic heterogeneity of dyslipoproteinemia 34
1.6.2 Genetic heterogeneity of dyslipidemia 38
II GENES OF LIPOPROTEIN METABOLISM 41
2.1 Genes of the endogenous pathway 41
2.1.1 The LDL receptor: a gene for familial hypercholesterolemia 41
2.1.2 Apolipoprotein B: a single locus for opposite diseases 54
2.1.3 Microsomal triglyceride Transfer Protein (MTP), a locus for
abetalipoproteinemia 66
2.1.4 Lipoprotein Lp(a), a mysterious candidate for atherosclerosis 69
2.1.5 HMGCoA reductase, the rate limiting enzyme of the mevalonate
pathway 77
2.1.6 Scavenger receptors 78
2.1.6.1 Scavenger receptors class A: molecular flypapers for modified
lipoproteins 78
2.1.6.2 CD36, a multifunctional receptor for fatty acids and thrombospondin,
scavenging oxidized lipoproteins 81
2.2 Genes controlling Triglyceride rich lipoprotein metabolism 84
2.2.1 Lipases 84
2.2.11 Lipoprotein Lipase, the rate limiting enzyme for triglyceride rich
lipoproteins 84
2.2.12 Hepatic Lipase, a lipase for lipoprotein remodeling 94
2.2.13 Other Lipases 97
2.2.2 Apolipoproteins 100
2.2.21 Apolipoprotein C II, an activator of lipoprotein lipase 100
2.2.22 Apoliprotein C I, a modulator of lipoprotein catabolism 103
vii
2.2.23 Apolipoprotein E, the major apolipoprotein for intermediate
lipoproteins 106
2.2.3 Receptors 116
2.2.31 LRP, a multifunctional receptor for intermediate lipoproteins 116
2.2.32 Megalin, an ancient member of the LDL receptor gene family
expressed in the kidney 120
2.2.33 VLDL Receptor (LR8), a multifunctional receptor with
species dependent requirements 122
2.3 Genes of the Reverse Pathway of lipoprotein metabolism 125
2.3.1 Apolipoproteins 125
2.3.11 Apolipoprotein A I, a major component of HDL 125
2.3.12 Apoliprotein C III, a modulator for triglyceride rich lipoprotein
catabolism 132
2.3.13 Apolipoprotein A IV, a component of intestinal lipoproteins 136
2.3.14 Apolipoprotein A II, a modulator of HDL metabolism 139
2.3.2 Circulating Enzymes and Transfer Proteins for
Lipoprotein Remodeling 141
2.3.21 Lecithin Cholesterol Acyl transferase (LCAT), a rate limiting
enzyme for HDL metabolism 141
2.3.22 Cholesteryl Ester Transfer Protein (CETP),
a « points man » of lipoprotein metabolism 145
2.3.23 Phospholipid Transfer Protein (PLTP),
a major component of HDL formation in plasma 151
2.3.3 Receptors 152
2.3.31 ABC 1, or cholesterol efflux regulatory protein,
a gene for Tangier Disease and Familial hypoalphalipoproteinemia 152
2.3.32 Scavenger Receptor class B l (SR BI),
a multifunctional receptor for the selective uptake of cholesterol 156
viii
2.3.33 Cubilin, a receptor for HDL in the kidney 158
2.4 Other Regulatory Pathways of Lipoprotein Metabolism 160
2.4.1 The Traffic of Intracellular Lipids 160
2.4.11 Lipid tafficking in cellular compartments 160
+ Niemann Pick Disease type C 161
+ Lysosomal Acid Lipase 163
+ Acyl CoA: Cholesterol acyl transferases (ACAT) 164
+ Intracellular fatty acid trafficking 165
2.4.12 Nuclear coordinators of intracellular energy resources 169
+ SREBPs (Sterol Responsive Element Binding Proteins) 169
+ PPARs (Peroxisome Proliferator Activated Receptors) 171
+ LXR (Liver X Receptor), FXR (Farnesoid X Receptor) 173
+ LaminsA/C 174
2.4.2 The Biosynthesis of Bile Acids 174
2.4.3 Other Apolipoproteins 178
2.4.4 Anti toxic and Anti oxidative Protection 180
III THE GENETIC BASIS OF DYSLIPIDEMIAS 183
3.1 The Genetic Architecture of Lipoprotein Metabolism 183
3.1.1 The functionality of candidate genes 184
3.1.11 Levels of functional significance of candidate genes 184
3.1.12 The redundancy of candidate genes 187
3.1.13 The multifunctionality of candidate genes 189
3.1.2 The driving forces of lipoprotein metabolism 190
3.2 The Candidate Gene Approach 194
3.2.1 In human disorders of lipoprotein metabolism 194
3.2.11 Identifying the disease causing mutation in inherited dyslipidemia 195
ix
3.2.12 A redefinition of inherited dyslipidemia 199
3.2.13 The evidence of genetic interactions 201
3.2.14 Identifying risk alleles for complex diseases in populations 202
3.2.15 Genetic determinants of dyslipidemia in populations 206
3.2.2 The candidate gene approach in experimental models
of dyslipidemia 209
3.2.21 In vitro studies and cell cultures 209
3.2.22 In vivo studies and animal models 210
3.2.3 Clinical issues of the candidate gene approach 212
3.2.31 Applications in current clinical care 212
3.2.32 Corrective gene therapy 213
3.2.4 Present limitations to the candidate gene approach 215
3.3 Novel Genes, Novel Approaches 215
3.3.1 Identifying novel genes of lipoprotein metabolism 216
3.3.11 Positional cloning of novel genes 216
3.3.12 Expression cloning of novel genes 218
3.3.13 In silico cloning of novel genes 218
3.3.2 Novel approaches to identify novel mechanisms
of human dyslipidemia 219
CONCLUSION 221
REFERENCES 223
INDEX 311
|
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| id | DE-604.BV014534127 |
| illustrated | Illustrated |
| indexdate | 2024-07-09T19:03:19Z |
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| isbn | 0792373626 |
| language | English |
| lccn | 2001037593 |
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| owner_facet | DE-355 DE-BY-UBR |
| physical | IX, 315 S. Ill. : 22 cm |
| publishDate | 2001 |
| publishDateSearch | 2001 |
| publishDateSort | 2001 |
| publisher | Kluwer |
| record_format | marc |
| series | Basic science for the cardiologist |
| series2 | Basic science for the cardiologist |
| spelling | Benlian, Pascale Verfasser aut Genetics of dyslipidemia by Pascale Benlian Boston [u.a.] Kluwer 2001 IX, 315 S. Ill. : 22 cm txt rdacontent n rdamedia nc rdacarrier Basic science for the cardiologist 7 Includes bibliographical references (S. 223-310) and index Hyperlipidemias genetics Lipids Metabolism Disorders Lipoproteins metabolism Hyperlipidämie (DE-588)4161072-6 gnd rswk-swf Genetik (DE-588)4071711-2 gnd rswk-swf Hyperlipidämie (DE-588)4161072-6 s Genetik (DE-588)4071711-2 s DE-604 Basic science for the cardiologist 7 (DE-604)BV012774326 7 HBZ Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=009890229&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
| spellingShingle | Benlian, Pascale Genetics of dyslipidemia Basic science for the cardiologist Hyperlipidemias genetics Lipids Metabolism Disorders Lipoproteins metabolism Hyperlipidämie (DE-588)4161072-6 gnd Genetik (DE-588)4071711-2 gnd |
| subject_GND | (DE-588)4161072-6 (DE-588)4071711-2 |
| title | Genetics of dyslipidemia |
| title_auth | Genetics of dyslipidemia |
| title_exact_search | Genetics of dyslipidemia |
| title_full | Genetics of dyslipidemia by Pascale Benlian |
| title_fullStr | Genetics of dyslipidemia by Pascale Benlian |
| title_full_unstemmed | Genetics of dyslipidemia by Pascale Benlian |
| title_short | Genetics of dyslipidemia |
| title_sort | genetics of dyslipidemia |
| topic | Hyperlipidemias genetics Lipids Metabolism Disorders Lipoproteins metabolism Hyperlipidämie (DE-588)4161072-6 gnd Genetik (DE-588)4071711-2 gnd |
| topic_facet | Hyperlipidemias genetics Lipids Metabolism Disorders Lipoproteins metabolism Hyperlipidämie Genetik |
| url | http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=009890229&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |
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