Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Inherited leanness

Inherited leanness is a diagnosis made by exclusion of anorexia and lipodystrophy. It is a dominant disorder caused by mutations of the AGRP gene.

Systematic

Disturbances of body fat distribution
Inherited leanness
AGRP
Lipodystrophy
Obesity

References:

1.

Kitamura T et al. (2006) Forkhead protein FoxO1 mediates Agrp-dependent effects of leptin on food intake.

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2.

Shutter JR et al. (1997) Hypothalamic expression of ART, a novel gene related to agouti, is up-regulated in obese and diabetic mutant mice.

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3.

Ollmann MM et al. (1997) Antagonism of central melanocortin receptors in vitro and in vivo by agouti-related protein.

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4.

Graham M et al. (1997) Overexpression of Agrt leads to obesity in transgenic mice.

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5.

Katsuki A et al. (2001) Plasma levels of agouti-related protein are increased in obese men.

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6.

Brown AM et al. (2001) The gene structure and minimal promoter of the human agouti related protein.

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7.

Argyropoulos G et al. (2002) A polymorphism in the human agouti-related protein is associated with late-onset obesity.

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8.

Marks DL et al. (2004) Ala67Thr polymorphism in the Agouti-related peptide gene is associated with inherited leanness in humans.

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9.

Luquet S et al. (2005) NPY/AgRP neurons are essential for feeding in adult mice but can be ablated in neonates.

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10.

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

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11.

Atasoy D et al. (2012) Deconstruction of a neural circuit for hunger.

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12.

Krashes MJ et al. (2014) An excitatory paraventricular nucleus to AgRP neuron circuit that drives hunger.

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13.

OMIM.ORG article

Omim 602311 external link
Update: Aug. 14, 2020
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