Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Ectonucleotid-Pyrophosphatase/-Phosphodiesterase

Das ENPP1-Gen kodiert ein transmembranöses Glykoprotein, welches für die Spaltung von Phosphordiesterbindungen verantwortlich ist. Mutationen können zum autosomal rezessiven Phosphatdiabetes vom Typ 2 und zur ebenso rezessiven generalisierten arteriellen Verkalkung im Kindesalter vom Typ 1 führen. Des weiteren ist es ein Risikogen for Adipositas und Insulinresistenz.

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:

Autosomal rezessive hypophosphatämische Rachitis Typ 2
ENPP1
Insulinresistenz
CIDEC
Diabetes mellitus mit Insulinresistenz und Acanthosis nigricans
INSR
ENPP1
IRS1
IRS2
PPARG
Generalisierte arterielle Verkalkung bei Kleinkindern 1
ENPP1
Neigung zu Fettleibigkeit
ADRB2
ADRB3
CARTPT
ENPP1
GHRL
PPARGC1B
SDC3
UCP1

Referenzen:

1.

Abate N et al. (2003) Genetic polymorphism PC-1 K121Q and ethnic susceptibility to insulin resistance.

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2.

Nakamura I et al. (1999) Association of the human NPPS gene with ossification of the posterior longitudinal ligament of the spine (OPLL).

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3.

Pizzuti A et al. (1999) A polymorphism (K121Q) of the human glycoprotein PC-1 gene coding region is strongly associated with insulin resistance.

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4.

Maddux BA et al. (2000) Membrane glycoprotein PC-1 inhibition of insulin receptor function occurs via direct interaction with the receptor alpha-subunit.

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5.

Rutsch F et al. (2001) PC-1 nucleoside triphosphate pyrophosphohydrolase deficiency in idiopathic infantile arterial calcification.

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6.

Frittitta L et al. (2001) The Q121 PC-1 variant and obesity have additive and independent effects in causing insulin resistance.

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7.

Koshizuka Y et al. (2002) Nucleotide pyrophosphatase gene polymorphism associated with ossification of the posterior longitudinal ligament of the spine.

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8.

Rutsch F et al. (2003) Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification.

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9.

Buckley MF et al. (1992) Plasma cell membrane glycoprotein gene Pca-1 (alkaline phosphodiesterase I) is linked to the proto-oncogene Myb on mouse chromosome 10.

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10.

Meyre D et al. (2004) A genome-wide scan for childhood obesity-associated traits in French families shows significant linkage on chromosome 6q22.31-q23.2.

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11.

Hamaguchi K et al. (2004) The PC-1 Q121 allele is exceptionally prevalent in the Dominican Republic and is associated with type 2 diabetes.

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12.

Kubaszek A et al. (2004) The association of the K121Q polymorphism of the plasma cell glycoprotein-1 gene with type 2 diabetes and hypertension depends on size at birth.

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13.

Dong H et al. (2005) Increased hepatic levels of the insulin receptor inhibitor, PC-1/NPP1, induce insulin resistance and glucose intolerance.

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14.

Meyre D et al. (2005) Variants of ENPP1 are associated with childhood and adult obesity and increase the risk of glucose intolerance and type 2 diabetes.

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15.

Rebbe NF et al. (1991) Identification of nucleotide pyrophosphatase/alkaline phosphodiesterase I activity associated with the mouse plasma cell differentiation antigen PC-1.

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16.

Keshavarz P et al. (2006) No evidence for association of the ENPP1 (PC-1) K121Q variant with risk of type 2 diabetes in a Japanese population.

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17.

Horikoshi T et al. (2006) A large-scale genetic association study of ossification of the posterior longitudinal ligament of the spine.

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18.

Böttcher Y et al. (2006) ENPP1 variants and haplotypes predispose to early onset obesity and impaired glucose and insulin metabolism in German obese children.

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19.

Dlamini N et al. (2009) Generalized arterial calcification of infancy: phenotypic spectrum among three siblings including one case without obvious arterial calcifications.

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20.

Levy-Litan V et al. (2010) Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene.

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21.

Lorenz-Depiereux B et al. (2010) Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets.

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22.

Buckley MF et al. (1990) Plasma cell membrane glycoprotein PC-1. cDNA cloning of the human molecule, amino acid sequence, and chromosomal location.

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23.

van Driel IR et al. (1987) Plasma cell membrane glycoprotein PC-1. Primary structure deduced from cDNA clones.

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24.

Harahap AR et al. (1988) Distribution of the murine plasma cell antigen PC-1 in non-lymphoid tissues.

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25.

Takahashi T et al. (1970) Surface alloantigens of plasma cells.

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26.

Sakaguchi AY et al. (1984) Chromosome assignments of four mouse cellular homologs of sarcoma and leukemia virus oncogenes.

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27.

Kahn CR et al. (1995) Diabetes. Causes of insulin resistance.

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28.

Maddux BA et al. (1995) Membrane glycoprotein PC-1 and insulin resistance in non-insulin-dependent diabetes mellitus.

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29.

Huang R et al. (1994) Expression of the murine plasma cell nucleotide pyrophosphohydrolase PC-1 is shared by human liver, bone, and cartilage cells. Regulation of PC-1 expression in osteosarcoma cells by transforming growth factor-beta.

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30.

Okawa A et al. (1998) Mutation in Npps in a mouse model of ossification of the posterior longitudinal ligament of the spine.

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