Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Einwärtsgerichteter Kaliumkanal KCNJ5

Das KCNJ5-Gen kodiert einen einwärts gerichteten Kaliumkanal, der auf vielen Zellmembranen vorkommen kann. Besondere physiologische Bedeutung besitzt dieser Kanal für die Aldosteron sezernierenden Zellen der Zona glomerulosa der Nebenniere und bei der Reizbildung im Herzen. In der Nebenieren steuert der Kanal die Aldosteronsekretion in Abhängigkeit von der extrazellulären Kaliumkonzentration. Es werden nicht nur somatische Mutationen in Aldoseronproduzierenden Tumoren der Nebenierenrinde gefunden. Keimbahnmutationen führen zu primären Hyperaldosteronismus Typ 3 und zum Long-QT-Syndrom Typ 13.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
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:

Hyperaldosteronismus Typ 3
KCNJ5
Long-QT-Syndrom 13
KCNJ5
Conn-Syndrom
ATP1A1
ATP2B3
CACNA1D
CACNA1H
CTNNB1
KCNJ5

Referenzen:

1.

He C et al. (2002) Identification of critical residues controlling G protein-gated inwardly rectifying K(+) channel activity through interactions with the beta gamma subunits of G proteins.

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2.

Geller DS et al. (2008) A novel form of human mendelian hypertension featuring nonglucocorticoid-remediable aldosteronism.

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3.

Perry CA et. al. (2008) Predisposition to late-onset obesity in GIRK4 knockout mice.

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4.

Yang Y et al. (2010) Identification of a Kir3.4 mutation in congenital long QT syndrome.

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5.

Choi M et al. (2011) K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension.

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6.

Xekouki P et al. (2012) KCNJ5 mutations in the National Institutes of Health cohort of patients with primary hyperaldosteronism: an infrequent genetic cause of Conn's syndrome.

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7.

Bar-Lev A et al. (2012) Genetics of adrenocortical disease: an update.

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8.

Zennaro MC et al. (2012) Integrating genetics and genomics in primary aldosteronism.

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9.

Åkerström T et al. (2012) Comprehensive re-sequencing of adrenal aldosterone producing lesions reveal three somatic mutations near the KCNJ5 potassium channel selectivity filter.

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10.

Yamada M et al. (2012) KCNJ5 mutations in aldosterone- and cortisol-co-secreting adrenal adenomas.

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11.

Kang YA et al. (2012) Advances in research on G protein-coupled inward rectifier K(+) channel gene.

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12.

Mulatero P et al. (2013) Role of KCNJ5 in familial and sporadic primary aldosteronism.

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13.

Scholl UI et al. (2013) New insights into aldosterone-producing adenomas and hereditary aldosteronism: mutations in the K+ channel KCNJ5.

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14.

Boulkroun S et al. (2013) KCNJ5 mutations in aldosterone producing adenoma and relationship with adrenal cortex remodeling.

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15.

Li NF et al. (2013) Genetic variations in the KCNJ5 gene in primary aldosteronism patients from Xinjiang, China.

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16.

Stowasser M et al. (2013) Primary aldosteronism and potassium channel mutations.

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17.

Tucker SJ et al. (1995) Assignment of KATP-1, the cardiac ATP-sensitive potassium channel gene (KCNJ5), to human chromosome 11q24.

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18.

Bond CT et al. (1994) Cloning and expression of a family of inward rectifier potassium channels.

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19.

Krapivinsky G et al. (1995) The G-protein-gated atrial K+ channel IKACh is a heteromultimer of two inwardly rectifying K(+)-channel proteins.

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20.

Ashford ML et al. (1994) Cloning and functional expression of a rat heart KATP channel.

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21.

Wickman K et al. (1997) Partial structure, chromosome localization, and expression of the mouse Girk4 gene.

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22.

Ji S et al. (1998) Mechanosensitivity of the cardiac muscarinic potassium channel. A novel property conferred by Kir3.4 subunit.

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23.

Corey S et al. (1998) Identification of native atrial G-protein-regulated inwardly rectifying K+ (GIRK4) channel homomultimers.

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24.

Kennedy ME et al. (1999) GIRK4 confers appropriate processing and cell surface localization to G-protein-gated potassium channels.

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