Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Angiopoietin-related Protein 4

Das ANGPTL4-Gen kodiert ein glycosiliertes Hormon welches in der Regulation der Glukose-Homöostase, des Lipidstoffwechsels und der Insulin-Sensitivität beteiligt ist. Mutationen werden im Zusammenhang mit familiärer Hypertrigylceridämie gesehen.

Diagnostik:

Research 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:

Veranlagung für hohe Triglyceridwerte
ANGPTL4

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.

Zheng J et. al. (2012) Inhibitory receptors bind ANGPTLs and support blood stem cells and leukaemia development.

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3.

Kersten S et. al. (2000) Characterization of the fasting-induced adipose factor FIAF, a novel peroxisome proliferator-activated receptor target gene.

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4.

Yoon JC et. al. (2000) Peroxisome proliferator-activated receptor gamma target gene encoding a novel angiopoietin-related protein associated with adipose differentiation.

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5.

Bäckhed F et. al. (2004) The gut microbiota as an environmental factor that regulates fat storage.

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6.

Minn AJ et. al. (2005) Genes that mediate breast cancer metastasis to lung.

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7.

Sukonina V et. al. (2006) Angiopoietin-like protein 4 converts lipoprotein lipase to inactive monomers and modulates lipase activity in adipose tissue.

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8.

Galaup A et. al. (2006) Angiopoietin-like 4 prevents metastasis through inhibition of vascular permeability and tumor cell motility and invasiveness.

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9.

Romeo S et. al. (2007) Population-based resequencing of ANGPTL4 uncovers variations that reduce triglycerides and increase HDL.

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10.

Padua D et. al. (2008) TGFbeta primes breast tumors for lung metastasis seeding through angiopoietin-like 4.

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11.

Talmud PJ et. al. (2008) ANGPTL4 E40K and T266M: effects on plasma triglyceride and HDL levels, postprandial responses, and CHD risk.

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12.

Romeo S et. al. (2009) Rare loss-of-function mutations in ANGPTL family members contribute to plasma triglyceride levels in humans.

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13.

Yin W et. al. (2009) Genetic variation in ANGPTL4 provides insights into protein processing and function.

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14.

Dewey FE et. al. (2016) Inactivating Variants in ANGPTL4 and Risk of Coronary Artery Disease.

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