Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Beta-2-adreneger Rezeptor

Das ADRB2-Gen codiert den beta-2-adrenergen Rezeptor. Mutationen sind mit Adipositas in Zusammenhang gebracht. Die Vererbung folgt einem dominanten Model. Es kann zudem zu synergistischen Reaktionen mit Mutationen in anderen Genen kommen. Weiterhin haben Mutationen Auswirkungen auf die pharmakologische Wirksamkeit von beta-2-Mimetika und auf die Neigung zur Entwicklung eines nächtlichen Asthma bronchiale.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Vermindertes Ansprechen auf beta-2-Mimetika
ADRB2
Neigung zu nächtlichem Asthma
ADRB2
Neigung zu Fettleibigkeit
ADRB2
ADRB3
CARTPT
ENPP1
GHRL
PPARGC1B
SDC3
UCP1

Referenzen:

1.

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

[^]
2.

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

[^]
3.

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.

[^]
4.

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

[^]
5.

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

[^]
6.

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

[^]
7.

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.

[^]
8.

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.

[^]
9.

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

[^]
10.

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

[^]
11.

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.

[^]
12.

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

[^]
13.

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

[^]
14.

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.

[^]
15.

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.

[^]
16.

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

[^]
17.

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.

[^]
18.

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

[^]
19.

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

[^]
20.

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

[^]
21.

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

[^]
22.

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

[^]
23.

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

[^]
24.

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

[^]
25.

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.

[^]
26.

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

[^]
27.

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

[^]
28.

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

[^]
29.

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

[^]
30.

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

[^]
31.

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

[^]
32.

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

[^]
33.

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

[^]
34.

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

[^]
35.

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

[^]
36.

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

[^]
37.

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

[^]
38.

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

[^]
39.

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

[^]
40.

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

[^]
41.

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

[^]
42.

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

[^]
43.

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

[^]
44.

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

[^]
45.

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

[^]
46.

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

[^]
47.

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

[^]

 

 
Ihre Nachricht: