期刊
EUROPEAN JOURNAL OF HUMAN GENETICS
卷 19, 期 2, 页码 131-137出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ejhg.2010.147
关键词
PROM1; CD133; endothelial; tubule; sella turcica
资金
- Big Lottery Fund
- Wolfson Trust
- National Society for Epilepsy
- Biomedical Research Centres at UCLH/UCL
- Great Ormond Street Hospital for Children/UCL Institute of Child Health
- Moorfields Eye Hospital/UCL Institute of Ophthamology
- Department of Health, NIHR Biomedical Research Centres
- British Heart Foundation
- National Institute for Health Research [NF-SI-0510-10157] Funding Source: researchfish
Mutations in prominin 1 (PROM1) have been shown to result in retinitis pigmentosa, macular degeneration and cone-rod dystrophy. Because of the putative role of PROM1 in hippocampal neurogenesis, we examined two kindreds with the same R373C PROM1 missense mutation using our established paradigm to study brain structure and function. As the protein encoded by PROM1, known as CD133, is used to identify stem/progenitor cells that can be found in peripheral blood and reflect endothelial reparatory mechanisms, other parameters were subsequently examined that included measures of vascular function, endothelial function and angiogenic capacity. We found that aspects of endothelial function assayed ex vivo were abnormal in patients with the R373C PROM1 mutation, with impaired adhesion capacity and higher levels of cellular damage. We also noted renal infections, haematuria and recurrent miscarriages possibly reflecting consequences of abnormal tubular modelling. Further studies are needed to confirm these findings. European Journal of Human Genetics (2011) 19, 131-137; doi:10.1038/ejhg.2010.147; published online 22 September 2010
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