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Related Experiment Video

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Catheter-based Endovascular Angioplasty for Fibrosing Mediastinitis-associated Pulmonary Vein Stenosis

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Pulmonary Vasculopathy Associated with FIGF Gene Mutation.

Evan Bailey¹, Ye Cui², Alicia Casey¹

¹Division of Pulmonary Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.

The American Journal of Pathology

|November 16, 2016

Summary

A novel mutation in the Vascular Endothelial Growth Factor-D (VEGF-D) gene causes aberrant angiogenesis and a rare lung disease. This finding highlights VEGF-D's crucial role in lung vascular development.

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Area of Science:

Genetics
Molecular Biology
Pulmonology

Background:

Vascular Endothelial Growth Factor-D (VEGF-D) regulates angiogenesis and lymphangiogenesis via VEGFR-2 and VEGFR-3.
Mutations in the FIGF gene encoding VEGF-D have not been previously documented.

Observation:

A young male presented with early childhood respiratory deficiency and a hemizygous mutation in the X-chromosome FIGF gene (c.352 G>A).
Histological examination of lung tissue revealed ectatic pulmonary arteries and veins.

Findings:

The identified mutation (c.352 G>A) resulted in a valine to methionine substitution at residue 118 in the VEGF-D protein.
The mutant VEGF-D protein exhibited increased dimerization, enhanced VEGFR-2 signaling, and aberrant angiogenesis in vivo.

Implications:

This study characterizes a new subtype of congenital diffuse lung disease with a specific histological correlate.
The findings underscore the critical role of VEGF-D in normal lung vascular development and homeostasis.