Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Hepcidin

Hepcidin wird vom HAMP-Gen kodiert. Es ist ein wichtiger Regulator im Eisenstoffwechsel und reguliert sowohl die Speicherung in den Makrophagen wie auch die Eisen-Aufnahme im Darm. Mutationen führen zur juvenilen Hämochromatose (Typ 2B). Oft liegt eine digenische Erkrankung vor, bei welcher eine heterozygote Mutation zusammen mit einer zweiten HFE1-Mutation auftritt.

Pathologie

Diagnostik:

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

Krankheiten:

Hämochromatose 2b
HAMP

Referenzen:

1.

Roetto A et. al. (2003) Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis.

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2.

Nicolas G et. al. (2003) Constitutive hepcidin expression prevents iron overload in a mouse model of hemochromatosis.

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3.

Muckenthaler M et. al. (2003) Regulatory defects in liver and intestine implicate abnormal hepcidin and Cybrd1 expression in mouse hemochromatosis.

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4.

Merryweather-Clarke AT et. al. (2003) Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis.

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5.

Nemeth E et al. (2004) Hepcidin regulates cellular iron efflux by binding to ferroportin and inducing its internalization.

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6.

Krause A et al. (2000) LEAP-1, a novel highly disulfide-bonded human peptide, exhibits antimicrobial activity.

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7.

Park CH et al. (2001) Hepcidin, a urinary antimicrobial peptide synthesized in the liver.

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8.

Pigeon C et al. (2001) A new mouse liver-specific gene, encoding a protein homologous to human antimicrobial peptide hepcidin, is overexpressed during iron overload.

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9.

Nicolas G et al. (2001) Lack of hepcidin gene expression and severe tissue iron overload in upstream stimulatory factor 2 (USF2) knockout mice.

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10.

Nicolas G et al. (2002) Severe iron deficiency anemia in transgenic mice expressing liver hepcidin.

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11.

Lou DQ et al. (2004) Functional differences between hepcidin 1 and 2 in transgenic mice.

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12.

Nemeth E et al. (2004) IL-6 mediates hypoferremia of inflammation by inducing the synthesis of the iron regulatory hormone hepcidin.

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13.

Matthes T et al. (2004) Severe hemochromatosis in a Portuguese family associated with a new mutation in the 5'-UTR of the HAMP gene.

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14.

Robson KJ et al. (2004) Recent advances in understanding haemochromatosis: a transition state.

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15.

Lee P et al. (2005) Regulation of hepcidin transcription by interleukin-1 and interleukin-6.

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16.

Babitt JL et al. (2006) Bone morphogenetic protein signaling by hemojuvelin regulates hepcidin expression.

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17.

Weizer-Stern O et al. (2007) Hepcidin, a key regulator of iron metabolism, is transcriptionally activated by p53.

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18.

Babitt JL et al. (2007) Modulation of bone morphogenetic protein signaling in vivo regulates systemic iron balance.

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19.

Tanno T et al. (2007) High levels of GDF15 in thalassemia suppress expression of the iron regulatory protein hepcidin.

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20.

Du X et al. (2008) The serine protease TMPRSS6 is required to sense iron deficiency.

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21.

Kautz L et al. (2008) Iron regulates phosphorylation of Smad1/5/8 and gene expression of Bmp6, Smad7, Id1, and Atoh8 in the mouse liver.

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22.

Andriopoulos B et al. (2009) BMP6 is a key endogenous regulator of hepcidin expression and iron metabolism.

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23.

Peslova G et al. (2009) Hepcidin, the hormone of iron metabolism, is bound specifically to alpha-2-macroglobulin in blood.

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24.

Vecchi C et al. (2009) ER stress controls iron metabolism through induction of hepcidin.

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25.

Smith CL et al. (2013) IL-22 regulates iron availability in vivo through the induction of hepcidin.

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