Phoenix Children's Research Institute Study Identifies FOXF1 Enhancers Involved in Rare Lung Disease

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PHOENIX, June 19, 2024 ~ A recent study published in Nature Communications has shed light on the link between non-coding FOXF1 gene deletions and a rare, lethal lung disease called Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins (ACDMPV). The research, conducted at the Phoenix Children's Research Institute at the University of Arizona College of Medicine – Phoenix, was led by Dr. Vlad Kalinichenko, an internationally renowned lung development and regeneration researcher.

The FOXF1 gene is known to play a critical role in pulmonary vascular development, specifically in the extension and branching of airways and blood vessels in the developing lung. However, previous studies have shown that deletions or mutations in this gene can lead to ACDMPV. Dr. Kalinichenko and his team aimed to identify specific enhancers within the FOXF1 gene that are associated with this rare disease.

"Our goal was to identify FOXF1 enhancers associated with ACDMPV so we can diagnose it more precisely in newborn babies," explained Dr. Kalinichenko.

In collaboration with Cincinnati Children's Hospital Medical Center, the team identified four upstream enhancers within the FOXF1 gene – FOXF1 Expression in the Lung 1, 2, 3 and 4. These enhancers were found to stimulate cell-specific expression of FOXF1 in pulmonary endothelium and stromal cells such as fibroblasts and pericytes. These cells are crucial for the development of alveoli, which are responsible for gas exchange in the lungs.

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The study also highlighted the importance of identifying these specific enhancers for accurate diagnosis of ACDMPV. Currently, genetic screening for this disease relies primarily on exome DNA sequencing. However, by pinpointing these critical enhancers, doctors may be able to diagnose ACDMPV earlier and more accurately.

"This study demonstrates that four specific FOXF1 enhancers play critical roles in the development of ACDMPV and resolves an important clinical question regarding why frequent non-coding FOXF1 deletions can lead to this lethal disease," said Dr. Kalinichenko.

He also noted that this research could have implications for other pulmonary disorders in newborns and infants, such as bronchopulmonary dysplasia and congenital diaphragmatic hernia.

The Phoenix Children's Research Institute at the University of Arizona College of Medicine – Phoenix, which launched in May 2023, has been instrumental in this groundbreaking study. With over 700 active studies and a team of 640 research investigators and staff members, the institute is dedicated to advancing medical research across various clinical disciplines.

As scientists continue to gain a better understanding of how genes work, it is hoped that this research will lead to more effective treatments for rare diseases like ACDMPV and other common pulmonary disorders in newborns and infants.
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