nephrin and Lymphedema

The molecular events involved in lymphatic development are poorly understood. Hence, the genes responsible for hereditary lymphedema are of great interest due to the potential for providing insights into the mechanisms of lymphatic development, the diagnosis, prevention and treatment of lymphedema, and lymphangiogenesis during tumor growth. Mutations in the FOXC2 transcription factor cause a major form of hereditary lymphedema, the lymphedema-distichiasis syndrome. We have conducted a study of Foxc2 expression during mouse development using immunohistochemistry, and examined its expression in lymphatics compared to its paralog Foxc1 and to Vegfr-3, Prox1 and other lymphatic and blood vascular proteins. We have found that Foxc2 is expressed in lymphatic primordia, jugular lymph sacs, lymphatic collectors and capillaries, as well as in podocytes, developing eyelids and other tissues associated with abnormalities in lymphedema-distichiasis syndrome.

Topics: Animals; DNA-Binding Proteins; Forkhead Transcription Factors; Gene Expression Regulation, Developmental; Heterozygote; Homeodomain Proteins; Homozygote; Humans; Immunohistochemistry; Lymphatic System; Lymphatic Vessels; Lymphedema; Membrane Proteins; Mice; Mice, Inbred C57BL; Mutation; Proteins; Syndrome; Time Factors; Transcription Factors; Tumor Suppressor Proteins; Vascular Endothelial Growth Factor Receptor-3