Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Mitochondriales Entkopplungsprotein 1

Das UCP1-Gen kodiert eine mitochondriales Transportprotein, welches für die Energiezufuhr und Wärmeproduktion der Zelle steuert. 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.

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:

Neigung zu Fettleibigkeit
ADRB2
ADRB3
CARTPT
ENPP1
GHRL
PPARGC1B
SDC3
UCP1

Referenzen:

1.

Urhammer SA et. al. (2000) Studies of the synergistic effect of the Trp/Arg64 polymorphism of the beta3-adrenergic receptor gene and the -3826 A-->G variant of the uncoupling protein-1 gene on features of obesity and insulin resistance in a population-based sample of 379 young Danish subjects.

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2.

Fletcher C et. al. (1991) A multilocus linkage map of mouse chromosome 8.

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3.

Cassard AM et. al. (1990) Human uncoupling protein gene: structure, comparison with rat gene, and assignment to the long arm of chromosome 4.

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4.

Jacobsson A et. al. (1985) Mitochondrial uncoupling protein from mouse brown fat. Molecular cloning, genetic mapping, and mRNA expression.

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5.

Ridley RG et. al. (1986) Complete nucleotide and derived amino acid sequence of cDNA encoding the mitochondrial uncoupling protein of rat brown adipose tissue: lack of a mitochondrial targeting presequence.

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6.

Bouillaud F et. al. (1988) Detection of brown adipose tissue uncoupling protein mRNA in adult patients by a human genomic probe.

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7.

Bouillaud F et. al. (1986) Complete cDNA-derived amino acid sequence of rat brown fat uncoupling protein.

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8.

Oppert JM et. al. (1994) DNA polymorphism in the uncoupling protein (UCP) gene and human body fat.

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9.

Lowell BB et. al. () Development of obesity in transgenic mice after genetic ablation of brown adipose tissue.

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10.

Clément K et. al. (1996) Additive effect of A-->G (-3826) variant of the uncoupling protein gene and the Trp64Arg mutation of the beta 3-adrenergic receptor gene on weight gain in morbid obesity.

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11.

Enerbäck S et. al. (1997) Mice lacking mitochondrial uncoupling protein are cold-sensitive but not obese.

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12.

Thomas SA et. al. (1997) Thermoregulatory and metabolic phenotypes of mice lacking noradrenaline and adrenaline.

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13.

Urhammer SA et. al. (1997) Studies of genetic variability of the uncoupling protein 1 gene in Caucasian subjects with juvenile-onset obesity.

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14.

Echtay KS et. al. (2000) Coenzyme Q is an obligatory cofactor for uncoupling protein function.

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15.

Echtay KS et. al. (2002) Superoxide activates mitochondrial uncoupling proteins.

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16.

Nagai N et. al. (2003) The -3826 A-->G variant of the uncoupling protein-1 gene diminishes postprandial thermogenesis after a high fat meal in healthy boys.

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17.

Bernal-Mizrachi C et. al. (2005) Vascular respiratory uncoupling increases blood pressure and atherosclerosis.

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18.

Berg F et. al. (2006) The uncoupling protein 1 gene (UCP1) is disrupted in the pig lineage: a genetic explanation for poor thermoregulation in piglets.

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19.

Tateishi K et. al. (2009) Role of Jhdm2a in regulating metabolic gene expression and obesity resistance.

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20.

Gerhart-Hines Z et. al. (2013) The nuclear receptor Rev-erbα controls circadian thermogenic plasticity.

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21.

Kong X et. al. (2014) IRF4 is a key thermogenic transcriptional partner of PGC-1α.

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22.

Chouchani ET et. al. (2016) Mitochondrial ROS regulate thermogenic energy expenditure and sulfenylation of UCP1.

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