Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Klotho

Das KL-Gen kodiert Klotho, welches Zusammen mit FGFR1 für die Signaltranduktion des Proteinhormons FGF23 verantwortlich ist. Daneben scheint es auch noch eine wichtige Rolle in anderen Regulationsprozessen zu spielen, so scheinen niedrige Spiegel die Alterung zu beschleunigen während hohe Spiegel dieses Proteins mit Langlebigkeit im Zusammenhang zu stehen. Aktivitätsmindernde Mutationen führen zur autosomal rezessiven hyperphosphatämischen Tumorcalcinose. Eine aktivitätssteigerne Translokation an diesem Lokus führt zu einer dominanten Hypophosphatämie mit Hyperparathyreoidismus.

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:

Hypophosphatämische Rachitis mit Hyperparathyroidismus
KL
Hyperphosphatämische familiäre Tumorcalcinose
FGF23
GALNT3
KL

Referenzen:

1.

Urakawa I et. al. (2006) Klotho converts canonical FGF receptor into a specific receptor for FGF23.

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2.

Kurosu H et. al. (2005) Suppression of aging in mice by the hormone Klotho.

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3.

Kuro-o M et. al. (1997) Mutation of the mouse klotho gene leads to a syndrome resembling ageing.

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4.

Matsumura Y et. al. (1998) Identification of the human klotho gene and its two transcripts encoding membrane and secreted klotho protein.

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5.

Saito Y et. al. (2000) In vivo klotho gene delivery protects against endothelial dysfunction in multiple risk factor syndrome.

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6.

Mori K et. al. (2000) Disruption of klotho gene causes an abnormal energy homeostasis in mice.

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7.

Koh N et. al. (2001) Severely reduced production of klotho in human chronic renal failure kidney.

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8.

Arking DE et. al. (2002) Association of human aging with a functional variant of klotho.

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9.

Fukino K et. al. (2002) Regulation of angiogenesis by the aging suppressor gene klotho.

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10.

Manya H et. al. (2002) Klotho protein deficiency leads to overactivation of mu-calpain.

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11.

Arking DE et. al. (2003) KLOTHO allele status and the risk of early-onset occult coronary artery disease.

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12.

Bektas A et. al. (2004) Klotho gene variation and expression in 20 inbred mouse strains.

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13.

Chang Q et. al. (2005) The beta-glucuronidase klotho hydrolyzes and activates the TRPV5 channel.

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14.

Haruna Y et. al. (2007) Amelioration of progressive renal injury by genetic manipulation of Klotho gene.

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15.

Imura A et. al. (2007) alpha-Klotho as a regulator of calcium homeostasis.

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16.

Liu H et. al. (2007) Augmented Wnt signaling in a mammalian model of accelerated aging.

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17.

Ichikawa S et. al. (2007) A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis.

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18.

Chen CD et. al. (2007) Insulin stimulates the cleavage and release of the extracellular domain of Klotho by ADAM10 and ADAM17.

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19.

Brownstein CA et. al. (2008) A translocation causing increased alpha-klotho level results in hypophosphatemic rickets and hyperparathyroidism.

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