Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Vermindertes Ansprechen auf beta-2-Mimetika

Das genetisch bedingte verminderte Ansprechen auf beta-2-Mimetika wird durch Mutationen im Beta-2-adreneger Rezeptor-Gen (ADRB2) vermittelt. Die Vererbung folgt dem dominanten Modell.

Gliederung

Erbliche Bronchial- und Lungenerkrankungen
Bronchiektasien mit und ohne erhöhtem Chlorid im Schweiß
Cystinose
Hereditäre pulmonale Embolie
Morbus Fabry
Neigung zu nächtlichem Asthma
Pulmonale alveoläre Mikrolithiasis
Vermindertes Ansprechen auf beta-2-Mimetika
ADRB2

Referenzen:

1.

Tsai HJ et al. (2006) Beta 2-adrenergic receptor polymorphisms: pharmacogenetic response to bronchodilator among African American asthmatics.

external link
2.

Meirhaeghe A et al. (2001) The effect of the Gly16Arg polymorphism of the beta(2)-adrenergic receptor gene on plasma free fatty acid levels is modulated by physical activity.

external link
3.

Corbalán MS et al. (2002) The 27Glu polymorphism of the beta2-adrenergic receptor gene interacts with physical activity influencing obesity risk among female subjects.

external link
4.

Bachman ES et al. (2002) betaAR signaling required for diet-induced thermogenesis and obesity resistance.

external link
5.

Evans WE et al. (2003) Pharmacogenomics--drug disposition, drug targets, and side effects.

external link
6.

Harrison T et al. (2003) Erythrocyte G protein-coupled receptor signaling in malarial infection.

external link
7.

Dallongeville J et al. (2003) The Gly16>Arg16 and Gln27>Glu27 polymorphisms of beta2-adrenergic receptor are associated with metabolic syndrome in men.

external link
8.

Odley A et al. (2004) Regulation of cardiac contractility by Rab4-modulated beta2-adrenergic receptor recycling.

external link
9.

Dishy V et al. (2004) Beta2-adrenoceptor Thr164Ile polymorphism is associated with markedly decreased vasodilator and increased vasoconstrictor sensitivity in vivo.

external link
10.

Israel E et al. () Use of regularly scheduled albuterol treatment in asthma: genotype-stratified, randomised, placebo-controlled cross-over trial.

external link
11.

Elefteriou F et al. (2005) Leptin regulation of bone resorption by the sympathetic nervous system and CART.

external link
12.

Contopoulos-Ioannidis DG et al. (2005) Meta-analysis of the association of beta2-adrenergic receptor polymorphisms with asthma phenotypes.

external link
13.

Lönnqvist F et al. (1992) Lipolytic catecholamine resistance due to decreased beta 2-adrenoceptor expression in fat cells.

external link
14.

Rasmussen SG et al. (2007) Crystal structure of the human beta2 adrenergic G-protein-coupled receptor.

external link
15.

Rosenbaum DM et al. (2007) GPCR engineering yields high-resolution structural insights into beta2-adrenergic receptor function.

external link
16.

Cherezov V et al. (2007) High-resolution crystal structure of an engineered human beta2-adrenergic G protein-coupled receptor.

external link
17.

Cagliani R et al. (2009) Diverse evolutionary histories for beta-adrenoreceptor genes in humans.

external link
18.

Nikolaev VO et al. (2010) Beta2-adrenergic receptor redistribution in heart failure changes cAMP compartmentation.

external link
19.

Wilson RH et al. (2010) Evolutionary history of the ADRB2 gene in humans.

external link
20.

Coureuil M et al. (2010) Meningococcus Hijacks a β2-adrenoceptor/β-Arrestin pathway to cross brain microvasculature endothelium.

external link
21.

Rasmussen SG et al. (2011) Structure of a nanobody-stabilized active state of the β(2) adrenoceptor.

external link
22.

Rosenbaum DM et al. (2011) Structure and function of an irreversible agonist-β(2) adrenoceptor complex.

external link
23.

Rasmussen SG et al. (2011) Crystal structure of the β2 adrenergic receptor-Gs protein complex.

external link
24.

Chung KY et al. (2011) Conformational changes in the G protein Gs induced by the β2 adrenergic receptor.

external link
25.

Davare MA et al. (2001) A beta2 adrenergic receptor signaling complex assembled with the Ca2+ channel Cav1.2.

external link
26.

Ni Y et al. (2006) Activation of beta2-adrenergic receptor stimulates gamma-secretase activity and accelerates amyloid plaque formation.

external link
27.

Oakey RJ et al. (1991) Genomic organization of adrenergic and serotonin receptors in the mouse: linkage mapping of sequence-related genes provides a method for examining mammalian chromosome evolution.

external link
28.

Szefler SJ et al. (1991) Plasma histamine, epinephrine, cortisol, and leukocyte beta-adrenergic receptors in nocturnal asthma.

external link
29.

Yang-Feng TL et al. (1990) Chromosomal organization of adrenergic receptor genes.

external link
30.

Emorine LJ et al. (1987) Structure of the gene for human beta 2-adrenergic receptor: expression and promoter characterization.

external link
31.

Fraser CM et al. (1988) Site-directed mutagenesis of human beta-adrenergic receptors: substitution of aspartic acid-130 by asparagine produces a receptor with high-affinity agonist binding that is uncoupled from adenylate cyclase.

external link
32.

Kobilka BK et al. (1987) cDNA for the human beta 2-adrenergic receptor: a protein with multiple membrane-spanning domains and encoded by a gene whose chromosomal location is shared with that of the receptor for platelet-derived growth factor.

external link
33.

Kobilka BK et al. () An intronless gene encoding a potential member of the family of receptors coupled to guanine nucleotide regulatory proteins.

external link
34.

Sheppard JR et al. (1983) Chromosomal assignment of the gene for the human beta 2-adrenergic receptor.

external link
35.

Turki J et al. (1995) Genetic polymorphisms of the beta 2-adrenergic receptor in nocturnal and nonnocturnal asthma. Evidence that Gly16 correlates with the nocturnal phenotype.

external link
36.

Reihsaus E et al. (1993) Mutations in the gene encoding for the beta 2-adrenergic receptor in normal and asthmatic subjects.

external link
37.

Dewar JC et al. (1997) The glutamine 27 beta2-adrenoceptor polymorphism is associated with elevated IgE levels in asthmatic families.

external link
38.

Large V et al. (1997) Human beta-2 adrenoceptor gene polymorphisms are highly frequent in obesity and associate with altered adipocyte beta-2 adrenoceptor function.

external link
39.

Martinez FD et al. (1997) Association between genetic polymorphisms of the beta2-adrenoceptor and response to albuterol in children with and without a history of wheezing.

external link
40.

Hopes E et al. (1998) Association of glutamine 27 polymorphism of beta 2 adrenoceptor with reported childhood asthma: population based study.

external link
41.

Krushkal J et al. (1998) Linkage and association of adrenergic and dopamine receptor genes in the distal portion of the long arm of chromosome 5 with systolic blood pressure variation.

external link
42.

Luttrell LM et al. (1999) Beta-arrestin-dependent formation of beta2 adrenergic receptor-Src protein kinase complexes.

external link
43.

Yamada K et al. (1999) Polymorphism in the 5'-leader cistron of the beta2-adrenergic receptor gene associated with obesity and type 2 diabetes.

external link
44.

Rohrer DK et al. (1999) Cardiovascular and metabolic alterations in mice lacking both beta1- and beta2-adrenergic receptors.

external link
45.

Maurice JP et al. (1999) Enhancement of cardiac function after adenoviral-mediated in vivo intracoronary beta2-adrenergic receptor gene delivery.

external link
46.

Drysdale CM et al. (2000) Complex promoter and coding region beta 2-adrenergic receptor haplotypes alter receptor expression and predict in vivo responsiveness.

external link
47.

Shenoy SK et al. (2001) Regulation of receptor fate by ubiquitination of activated beta 2-adrenergic receptor and beta-arrestin.

external link
48.

OMIM.ORG article

Omim 109690 external link
Update: 14. August 2020
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