Screening of the transcriptional regulatory regions of vascular endothelial growth factor receptor 2 (VEGFR2) in amyotrophic lateral sclerosis

Alice Brockington; Beatrijs Wokke; Hannah Nixon; Judith Hartley; Pamela J. Shaw

doi:10.1186/1471-2350-8-23

Screening of the transcriptional regulatory regions of vascular endothelial growth factor receptor 2 (VEGFR2) in amyotrophic lateral sclerosis

Alice Brockington, Beatrijs Wokke, Hannah Nixon, Judith Hartley, Pamela J. Shaw

Department of Nursing and Midwifery

Research output: Contribution to journal › Article

13 Citations (Scopus)

Abstract

Background
Vascular endothelial growth factor (VEGF) has neurotrophic activity which is mediated by its main agonist receptor, VEGFR2. Dysregulation of VEGF causes motor neurone degeneration in a mouse model of amyotrophic lateral sclerosis (ALS), and expression of VEGFR2 is reduced in motor neurones and spinal cord of patients with ALS.

Methods
We have screened the promoter region and 4 exonic regions of functional significance of the VEGFR2 gene in a UK population of patients with ALS, for mutations and polymorphisms that may affect expression or function of this VEGF receptor.

Results
No mutations were identified in the VEGFR2 gene. We found no association between polymorphisms in the regulatory regions of the VEGFR2 gene and ALS.

Conclusion
Mechanisms other than genetic variation may downregulate expression or function of the VEGFR2 receptor in patients with ALS.

Original language	English
Journal	Journal of Medical Genetics
Volume	8
Issue number	23
DOIs	https://doi.org/10.1186/1471-2350-8-23
Publication status	Published - 24 Apr 2007

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Brockington, A., Wokke, B., Nixon, H., Hartley, J., & Shaw, P. J. (2007). Screening of the transcriptional regulatory regions of vascular endothelial growth factor receptor 2 (VEGFR2) in amyotrophic lateral sclerosis. Journal of Medical Genetics, 8(23). https://doi.org/10.1186/1471-2350-8-23

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abstract = "BackgroundVascular endothelial growth factor (VEGF) has neurotrophic activity which is mediated by its main agonist receptor, VEGFR2. Dysregulation of VEGF causes motor neurone degeneration in a mouse model of amyotrophic lateral sclerosis (ALS), and expression of VEGFR2 is reduced in motor neurones and spinal cord of patients with ALS.MethodsWe have screened the promoter region and 4 exonic regions of functional significance of the VEGFR2 gene in a UK population of patients with ALS, for mutations and polymorphisms that may affect expression or function of this VEGF receptor.ResultsNo mutations were identified in the VEGFR2 gene. We found no association between polymorphisms in the regulatory regions of the VEGFR2 gene and ALS.ConclusionMechanisms other than genetic variation may downregulate expression or function of the VEGFR2 receptor in patients with ALS.",

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AU - Brockington, Alice

AU - Wokke, Beatrijs

AU - Nixon, Hannah

AU - Hartley, Judith

AU - Shaw, Pamela J.

PY - 2007/4/24

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N2 - BackgroundVascular endothelial growth factor (VEGF) has neurotrophic activity which is mediated by its main agonist receptor, VEGFR2. Dysregulation of VEGF causes motor neurone degeneration in a mouse model of amyotrophic lateral sclerosis (ALS), and expression of VEGFR2 is reduced in motor neurones and spinal cord of patients with ALS.MethodsWe have screened the promoter region and 4 exonic regions of functional significance of the VEGFR2 gene in a UK population of patients with ALS, for mutations and polymorphisms that may affect expression or function of this VEGF receptor.ResultsNo mutations were identified in the VEGFR2 gene. We found no association between polymorphisms in the regulatory regions of the VEGFR2 gene and ALS.ConclusionMechanisms other than genetic variation may downregulate expression or function of the VEGFR2 receptor in patients with ALS.

AB - BackgroundVascular endothelial growth factor (VEGF) has neurotrophic activity which is mediated by its main agonist receptor, VEGFR2. Dysregulation of VEGF causes motor neurone degeneration in a mouse model of amyotrophic lateral sclerosis (ALS), and expression of VEGFR2 is reduced in motor neurones and spinal cord of patients with ALS.MethodsWe have screened the promoter region and 4 exonic regions of functional significance of the VEGFR2 gene in a UK population of patients with ALS, for mutations and polymorphisms that may affect expression or function of this VEGF receptor.ResultsNo mutations were identified in the VEGFR2 gene. We found no association between polymorphisms in the regulatory regions of the VEGFR2 gene and ALS.ConclusionMechanisms other than genetic variation may downregulate expression or function of the VEGFR2 receptor in patients with ALS.

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