Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Zytoplasmatische Glycerol-3-phosphate-Dehydrogenase

Das GPD1-Gen kodiert ein wichtiges Enzym der Triglyceridsynthese. Mutationen führen zur autosomal rezessiven transienten infantilen Hypertriglyceridämie. Weiterhin ist ein Zusammenhang mit dem Kohlenhydrat-Stoffwechsel beobachtet.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Transiente infantile Hypertriglyceridämie
GPD1
Gestörte Regulatoren des Lipid- und Kohlenhydratstoffwechsels
GCKR
GPD1
MLXIPL
TRIB1

Referenzen:

1.

Cefalù AB et. al. () Identification of a novel LMF1 nonsense mutation responsible for severe hypertriglyceridemia by targeted next-generation sequencing.

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2.

Hopkinson DA et. al. (1974) Rare electrophoretic variants of glycerol-3-phosphate dehydrogenase: evidence for two structural gene loci (GPD1 and GPD2).

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3.

Menaya J et. al. (1995) Molecular cloning, sequencing and expression of a cDNA encoding a human liver NAD-dependent alpha-glycerol-3-phosphate dehydrogenase.

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4.

Prasad R et. al. (1997) Structure and expression pattern of human ALR, a novel gene with strong homology to ALL-1 involved in acute leukemia and to Drosophila trithorax.

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5.

Brown LJ et. al. (2002) Lethal hypoglycemic ketosis and glyceroluria in mice lacking both the mitochondrial and the cytosolic glycerol phosphate dehydrogenases.

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6.

Basel-Vanagaite L et. al. (2012) Transient infantile hypertriglyceridemia, fatty liver, and hepatic fibrosis caused by mutated GPD1, encoding glycerol-3-phosphate dehydrogenase 1.

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7.

Joshi M et. al. (2014) A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia.

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