瓣膜缺陷和异常的壁细胞募集是双行睫性淋巴水肿中淋巴管功能衰竭的基础。
Defective valves and abnormal mural cell recruitment underlie lymphatic vascular failure in lymphedema distichiasis.
作者信息
Petrova Tatiana V, Karpanen Terhi, Norrmén Camilla, Mellor Russell, Tamakoshi Tomoki, Finegold David, Ferrell Robert, Kerjaschki Dontscho, Mortimer Peter, Ylä-Herttuala Seppo, Miura Naoyuki, Alitalo Kari
机构信息
Molecular/Cancer Biology Laboratory and Ludwig Institute for Cancer Research, Biomedicum Helsinki and Helsinki University Central Hospital, University of Helsinki, Haartmaninkatu 8, P.O.B. 63, 00014 Helsinki, Finland.
出版信息
Nat Med. 2004 Sep;10(9):974-81. doi: 10.1038/nm1094. Epub 2004 Aug 22.
Lymphatic vessels are essential for the removal of interstitial fluid and prevention of tissue edema. Lymphatic capillaries lack associated mural cells, and collecting lymphatic vessels have valves, which prevent lymph backflow. In lymphedema-distichiasis (LD), lymphatic vessel function fails because of mutations affecting the forkhead transcription factor FOXC2. We report that Foxc2(-/-) mice show abnormal lymphatic vascular patterning, increased pericyte investment of lymphatic vessels, agenesis of valves and lymphatic dysfunction. In addition, an abnormally large proportion of skin lymphatic vessels was covered with smooth muscle cells in individuals with LD and in mice heterozygous for Foxc2 and for the gene encoding lymphatic endothelial receptor, Vegfr3 (also known as Flt4). Our data show that Foxc2 is essential for the morphogenesis of lymphatic valves and the establishment of a pericyte-free lymphatic capillary network and that it cooperates with Vegfr3 in the latter process. Our results indicate that an abnormal interaction between the lymphatic endothelial cells and pericytes, as well as valve defects, underlie the pathogenesis of LD.
淋巴管对于清除组织间液和预防组织水肿至关重要。淋巴毛细血管缺乏相关的壁细胞,而集合淋巴管有瓣膜,可防止淋巴回流。在淋巴水肿 - 双行睫综合征(LD)中,由于影响叉头转录因子FOXC2的突变,淋巴管功能出现障碍。我们报告称,Foxc2基因敲除小鼠表现出异常的淋巴管模式、淋巴管周围周细胞覆盖增加、瓣膜发育不全以及淋巴功能障碍。此外,在LD患者以及Foxc2和编码淋巴管内皮受体Vegfr3(也称为Flt4)的基因杂合的小鼠中,异常大比例的皮肤淋巴管被平滑肌细胞覆盖。我们的数据表明,Foxc2对于淋巴瓣膜的形态发生以及无周细胞的淋巴毛细血管网络的建立至关重要,并且它在后者的过程中与Vegfr3协同作用。我们的结果表明,淋巴内皮细胞与周细胞之间的异常相互作用以及瓣膜缺陷是LD发病机制的基础。