Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

alpha-Ketoglutarate-abhängige Dioxygenase FTO

Die physiologische Funktion des vom FTO-Gen kodierten Enzyms ist noch nicht genau bekannt. Genetische Veränderungen in diesem Gen verursachen Wachstumsstörungen und sind mit Fettsucht und Typ 2 Diabetes assoziiert.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Wachstums- und Entwicklungsverzögerung mit Gesichtsdysmorphien
FTO
Genetischer BMI-Faktor 14
FTO

Referenzen:

1.

Scott LJ et al. (2007) A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants.

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2.

Zeggini E et al. (2007) Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes.

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3.

Meyre D et al. (2009) Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations.

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4.

Boissel S et al. (2009) Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations.

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5.

Daoud H et al. (2016) Identification of a pathogenic FTO mutation by next-generation sequencing in a newborn with growth retardation and developmental delay.

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6.

Frayling TM et al. (2007) A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity.

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7.

Dina C et al. (2007) Variation in FTO contributes to childhood obesity and severe adult obesity.

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8.

Claussnitzer M et al. (2015) FTO Obesity Variant Circuitry and Adipocyte Browning in Humans.

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9.

van der Hoeven F et al. (1994) Programmed cell death is affected in the novel mouse mutant Fused toes (Ft).

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10.

Peters T et al. (1999) Cloning of Fatso (Fto), a novel gene deleted by the Fused toes (Ft) mouse mutation.

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11.

Gerken T et al. (2007) The obesity-associated FTO gene encodes a 2-oxoglutarate-dependent nucleic acid demethylase.

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12.

Fischer J et al. (2009) Inactivation of the Fto gene protects from obesity.

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13.

Han Z et al. (2010) Crystal structure of the FTO protein reveals basis for its substrate specificity.

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14.

Church C et al. (2010) Overexpression of Fto leads to increased food intake and results in obesity.

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15.

Orphanet article

Orphanet ID 212927 [^]
16.

NCBI article

NCBI 79068 [^]
17.

OMIM.ORG article

Omim 610966 [^]
Update: 29. April 2019