透明的角膜是视觉所必需的，这也是为什么眼睛进化成无血管滋养角膜原因。但是，对于世界上数百万人来说，眼疾或创伤能引起血管生长，引起失明。
一项新的西北医学研究已鉴定出一个在维持人与老鼠角膜透明度起这要作用的基因--可能被用作基因治疗来治疗导致失明的疾病。文章发表在《国家科学研究院学报》（PNAS,Proceedings of the National Academy of Sciences）上。
"我们相信，我们已发现了眼睛内阻止血管形成、保护角膜透明度的主要调节基因，"文章作者Tsutomu Kume这样说，他是西北大学费因伯格医学院的医学副教授，也是费因伯格心血管研究所的研究人员。
基因FoxC1的存在是早就已知的，但是它在维持角膜澄清的作用是一新发现。用这个基因缺失的特殊品种小鼠进行研究，Kume与同事们发现可条纹化角膜和遮挡光线的异常血管形态或异常血管。
当Kume发现突变体小鼠的角膜血管量，他告知合作者--加拿大艾伯塔大学眼科学与医学遗传学教授Ordan Lehmann医学博士。
Lehmann发现他的病人眼睛里也有异常血管生长，这些病人有单拷贝的FoxC1基因突变体，患先天性青光眼。
"令人兴奋的事是FoxC1的丧失导致了角膜的血管化作用，这意味着增加这个基因的水平可能有助于阻止可能在多种眼疾中导致失明的血管异常生长，" 文章另一作者Lehmann说。"那就是希望。"一个可能的用途就是用于角膜移植，而角膜移植的主要问题就是移植角膜上的新血管生长。
Kume接下来计划在小鼠上测试基因治疗，观察注射FoxC1是否抑制角膜中血管的形成。（生物谷bioon.com）
doi:doi:10.1073/pnas.1109540109
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PMID:
Forkhead box transcription factor FoxC1 preserves corneal transparency by regulating vasculargrowth.
Seo S, Singh HP, Lacal PM, Sasman A, Fatima A, Liu T, Schultz KM, Losordo DW, Lehmann OJ, Kume T.
Abstract Normal vision requires the precise control of vascular growth to maintain corneal transparency. Here we provide evidence for a unique mechanism by which the Forkhead box transcription factor FoxC1 regulates corneal vascular development. Murine Foxc1 is essential for development of the ocular anterior segment, and in humans, mutations have been identified in Axenfeld-Rieger syndrome, a disorder characterized by anterior segment dysgenesis. We show that FOXC1 mutations also lead to corneal angiogenesis, and that mice homozygous for either a global (Foxc1(-/-)) or neural crest (NC)-specific (NC-Foxc1(-/-)) null mutation display excessive growth of corneal blood and lymphatic vessels. This is associated with disorganization of the extracellular matrix and increased expression of multiple matrix metalloproteinases. Heterozygous mutants (Foxc1(+/-) and NC-Foxc1(+/-)) exhibit milder phenotypes, such as disrupted limbal vasculature. Moreover, environmental exposure to corneal injury significantly increases growth of both blood and lymphatic vessels in both Foxc1(+/-) and NC-Foxc1(+/-) mice compared with controls. Notably, this amplification of the angiogenic response is abolished by inhibition of VEGF receptor 2. Collectively, these findings identify a role for FoxC1 in inhibiting cornealangiogenesis, thereby maintaining corneal transparency by regulating VEGF signaling.
