Cause of disease that turns babies’ lips blue identified

Using a gene editing method called CRISPR/Cas9, researchers have identified the cause and potential treatment for a rare, fatal disease that turns babies’ lips and skin blue. Mostly untreatable, Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins (ACDMPV) usually strikes infants within a month of birth, according researchers at Cincinnati Children’s Hospital Medical Centre in the US.
The disease starves the pulmonary system of oxygen after the lung’s blood vessels do not form properly during organ development.
The lack of tiny blood vessels called alveolar capillaries causes hypoxia, inflammation and death.
“There are no effective treatments other than a lung transplant, so the need for new therapeutics is urgent,” said study investigator Vlad Kalinichenko from Cincinnati Children’s Perinatal Institute Centre for Lung Regenerative Medicine.
“We identified a nanoparticle therapeutic strategy to increase the number of alveolar capillaries and help preserve respiratory function for at least a subset of the babies with this congenital lung disease,” Kalinichenko added.
The disease has long been linked to mutations in the FOXF1 gene, an important regulator of embryonic lung development.