Work

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

Year: 2007

Type: article

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.

Source: BMC Medical Genetics

DOI: 10.1186/1471-2350-8-23

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

Institutions: University of Sheffield, Leiden University Medical Center

Language: English

Topic: Amyotrophic Lateral Sclerosis Research

Subfield: Clinical Neurology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,380