Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Appetit-regulierendes Hormon

Das GHRL-Gen codiert ein Protein, welches in zwei Peptidhormone gespalten wird, die in der Regulation von Appetit und Energieaufnahme bzw. -bilanzierung beteiligt sind. 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.

Dixit VD et al. (2004) Ghrelin inhibits leptin- and activation-induced proinflammatory cytokine expression by human monocytes and T cells.

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2.

Zigman JM et al. (2005) Mice lacking ghrelin receptors resist the development of diet-induced obesity.

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3.

Andrews ZB et. al. (2008) UCP2 mediates ghrelin's action on NPY/AgRP neurons by lowering free radicals.

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4.

Kojima M et. al. (1999) Ghrelin is a growth-hormone-releasing acylated peptide from stomach.

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5.

Tschöp M et. al. (2000) Ghrelin induces adiposity in rodents.

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6.

Date Y et. al. (2000) Ghrelin, a novel growth hormone-releasing acylated peptide, is synthesized in a distinct endocrine cell type in the gastrointestinal tracts of rats and humans.

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7.

Takaya K et. al. (2000) Ghrelin strongly stimulates growth hormone release in humans.

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8.

Date Y et. al. (2001) Ghrelin acts in the central nervous system to stimulate gastric acid secretion.

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9.

Nakazato M et. al. (2001) A role for ghrelin in the central regulation of feeding.

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10.

Kojima M et. al. (2001) Ghrelin: discovery of the natural endogenous ligand for the growth hormone secretagogue receptor.

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11.

Ukkola O et. al. (2001) Mutations in the preproghrelin/ghrelin gene associated with obesity in humans.

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12.

Tanaka M et. al. (2001) Testis-specific and developmentally induced expression of a ghrelin gene-derived transcript that encodes a novel polypeptide in the mouse.

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13.

Cummings DE et. al. (2002) Plasma ghrelin levels after diet-induced weight loss or gastric bypass surgery.

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14.

Hinney A et. al. (2002) Ghrelin gene: identification of missense variants and a frameshift mutation in extremely obese children and adolescents and healthy normal weight students.

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15.

Korbonits M et. al. (2002) A variation in the ghrelin gene increases weight and decreases insulin secretion in tall, obese children.

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16.

DelParigi A et. al. (2002) High circulating ghrelin: a potential cause for hyperphagia and obesity in prader-willi syndrome.

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17.

Haqq AM et. al. (2003) Serum ghrelin levels are inversely correlated with body mass index, age, and insulin concentrations in normal children and are markedly increased in Prader-Willi syndrome.

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18.

Cowley MA et. al. (2003) The distribution and mechanism of action of ghrelin in the CNS demonstrates a novel hypothalamic circuit regulating energy homeostasis.

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19.

Corbetta S et. al. (2003) Circulating ghrelin levels in patients with pancreatic and gastrointestinal neuroendocrine tumors: identification of one pancreatic ghrelinoma.

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20.

Popovic V et. al. (2003) Ghrelin main action on the regulation of growth hormone release is exerted at hypothalamic level.

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21.

Pagotto U et. al. (2003) Testosterone replacement therapy restores normal ghrelin in hypogonadal men.

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22.

Leonetti F et. al. (2003) Different plasma ghrelin levels after laparoscopic gastric bypass and adjustable gastric banding in morbid obese subjects.

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23.

Farquhar J et. al. (2003) Elevated umbilical cord ghrelin concentrations in small for gestational age neonates.

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24.

Wortley KE et. al. (2004) Genetic deletion of ghrelin does not decrease food intake but influences metabolic fuel preference.

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25.

Leidy HJ et. al. (2004) Circulating ghrelin is sensitive to changes in body weight during a diet and exercise program in normal-weight young women.

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26.

Steinle NI et. al. (2005) Variants in the ghrelin gene are associated with metabolic syndrome in the Old Order Amish.

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27.

Zhang JV et. al. (2005) Obestatin, a peptide encoded by the ghrelin gene, opposes ghrelin's effects on food intake.

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28.

Wortley KE et. al. (2005) Absence of ghrelin protects against early-onset obesity.

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29.

Doi A et. al. (2006) IA-2beta, but not IA-2, is induced by ghrelin and inhibits glucose-stimulated insulin secretion.

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30.

Theander-Carrillo C et. al. (2006) Ghrelin action in the brain controls adipocyte metabolism.

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31.

Abizaid A et. al. (2006) Ghrelin modulates the activity and synaptic input organization of midbrain dopamine neurons while promoting appetite.

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32.

Chartrel N et. al. (2007) Comment on "Obestatin, a peptide encoded by the ghrelin gene, opposes ghrelin's effects on food intake".

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33.

Kluge M et. al. (2007) Ghrelin suppresses secretion of luteinizing hormone in humans.

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34.

Checchi S et. al. (2007) Serum ghrelin as a marker of atrophic body gastritis in patients with parietal cell antibodies.

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35.

Dixit VD et. al. (2007) Ghrelin promotes thymopoiesis during aging.

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36.

Yang J et. al. (2008) Identification of the acyltransferase that octanoylates ghrelin, an appetite-stimulating peptide hormone.

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37.

Feigerlová E et. al. (2008) Hyperghrelinemia precedes obesity in Prader-Willi syndrome.

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38.

Kirchner H et. al. (2009) GOAT links dietary lipids with the endocrine control of energy balance.

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39.

Jerlhag E et. al. (2009) Requirement of central ghrelin signaling for alcohol reward.

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