Screening of the transcriptional regulatory regions of vascular endothelial growth factor receptor 2 (VEGFR2) in amyotrophic lateral sclerosis.
BMC Med Genet
; 8: 23, 2007 Apr 24.
Article
en En
| MEDLINE
| ID: mdl-17456229
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.
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Receptor 2 de Factores de Crecimiento Endotelial Vascular
/
Elementos Reguladores de la Transcripción
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Esclerosis Amiotrófica Lateral
Tipo de estudio:
Diagnostic_studies
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Prognostic_studies
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Screening_studies
Límite:
Female
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Humans
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Male
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Middle aged
Idioma:
En
Año:
2007
Tipo del documento:
Article