Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Hämojuvelin

Das HJV-Gen kodiert ein wichtiges Regulatorprotein, Hämojuvelin, des Eisenstoffwechsels. Dieses Protein ist in der Signalkaskade vor dem Hepcidin anzutreffen. Es reguliert die Hepcidin expression und Mutationen entwickeln deshalb einen ähnlichen Phänotyp einer juvenilen Hämochromatose (Typ 2A), die in diesem Falle autosomal rezessiv vererbt wird.

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 2a
HFE2

Referenzen:

1.

Rivard SR et. al. (2003) Juvenile hemochromatosis locus maps to chromosome 1q in a French Canadian population.

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2.

Papanikolaou G et. al. (2004) Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis.

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3.

Lanzara C et. al. (2004) Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis.

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4.

Le Gac G et. al. (2004) The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype.

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5.

Lee PL et. al. (2004) Hemojuvelin (HJV) mutations in persons of European, African-American and Asian ancestry with adult onset haemochromatosis.

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6.

Gehrke SG et. al. (2005) HJV gene mutations in European patients with juvenile hemochromatosis.

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7.

Murugan RC et. al. (2008) Early age-of-onset iron overload and homozygosity for the novel hemojuvelin mutation HJV R54X (exon 3; c.160A-->T) in an African American male of West Indies descent.

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8.

Brakensiek K et. al. (2009) Juvenile hemochromatosis due to homozygosity for the G320V mutation in the HJV gene with fatal outcome.

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9.

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

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10.

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

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11.

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

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12.

Barton JC et al. () Juvenile hemochromatosis in the southeastern United States: a report of seven cases in two kinships.

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13.

Lee PL et al. (2004) Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene encoding hemojuvelin.

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14.

Huang FW et al. (2004) Identification of a novel mutation (C321X) in HJV.

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15.

Niederkofler V et al. (2005) Hemojuvelin is essential for dietary iron sensing, and its mutation leads to severe iron overload.

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16.

Huang FW et al. (2005) A mouse model of juvenile hemochromatosis.

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17.

Lenoir A et al. (2011) Iron-deficiency anemia from matriptase-2 inactivation is dependent on the presence of functional Bmp6.

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