Does the genotype of HHT patients with mutations of the ENG and ACVRL1 gene correlate to different expression levels of the angiogenic factor VEGF?

Sadick,Haneen; Hage,Johanna; Goessler,Ulrich; Bran,Gregor; Riedel,Frank; Bugert,Peter; Hoermann,Karl

doi:10.3892/ijmm_00000058

November 2008 Volume 22 Issue 5

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November 2008 Volume 22 Issue 5

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Article

Does the genotype of HHT patients with mutations of the ENG and ACVRL1 gene correlate to different expression levels of the angiogenic factor VEGF?

Authors:
- Haneen Sadick
- Johanna Hage
- Ulrich Goessler
- Gregor Bran
- Frank Riedel
- Peter Bugert
- Karl Hoermann
View Affiliations / Copyright

Affiliations: Department of Otolaryngology, Head and Neck Surgery, Medical Faculty of Mannheim, University of Heidelberg, Theodor-Kutzer-Ufer, D-68135 Mannheim, Germany. haneen.sadick@hno.ma.uni-heidelberg.de
Pages: 575-580
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Published online on: November 1, 2008

https://doi.org/10.3892/ijmm_00000058
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Abstract

The aim of this study was to determine in what way HHT (hereditary hemorrhagic telangiectasia) patients with mutations for the endoglin (ENG) or activin receptor-like kinase 1 (ACVRL1) gene show different expression levels of the angiogenic factor VEGF (vascular endothelial growth factor) by correlating VEGF to the HHT genotype. In 18 HHT patients, who were screened for ENG and ACVRL1 gene mutations and 25 healthy controls the VEGF plasma level as well as the VEGF tissue expression were determined by ELISA technique and cryostat sections of the nasal mucosa. In general, the VEGF plasma levels as well as the VEGF tissue expression were significantly higher in HHT patients compared to healthy controls. However, the correlation of VEGF to the HHT genotype did not show any significant differences, i.e. the VEGF plasma levels as well as the VEGF tissue expression in HHT patients with ENG gene mutations did not differ significantly to those of HHT patients with ACVRL1 gene mutations or mutations for both the genes. In spite of the fact that the angiogenic factor VEGF seems to play an important role in the pathogenesis of HHT, it cannot serve as a specific diagnostic screening marker. These results underline the importance and necessity of molecular analyses in HHT patients.

Journals

International Journal of Molecular Medicine

International Journal of Oncology

Molecular Medicine Reports

Oncology Reports

Experimental and Therapeutic Medicine

Oncology Letters

Biomedical Reports

Molecular and Clinical Oncology

World Academy of Sciences Journal

International Journal of Functional Nutrition

International Journal of Epigenetics

Medicine International

Does the genotype of HHT patients with mutations of the ENG and ACVRL1 gene correlate to different expression levels of the angiogenic factor VEGF?

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Abstract

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