ABCA3 : ATP binding cassette subfamily A member 3
The ABCA3 Gene and Its Essential Role in Lung Function
Description
The ABCA3 gene is responsible for encoding the ABCA3 protein, an integral component involved in the production of surfactant, a critical substance that lines the lungs and facilitates effortless breathing. Surfactant is composed of a blend of phospholipids and proteins that coat the lung tissue. Its presence prevents the collapse of alveoli, the tiny air sacs in the lungs, during exhalation by counteracting surface tension. Without adequate surfactant, the lungs would struggle to fill with air, leading to hindered oxygen delivery to the body.
Associated Diseases
Mutations in the ABCA3 gene can result in a collection of lung diseases known as pulmonary surfactant dysfunction disorders, characterized by impaired surfactant production or function. Among these disorders are:
- Neonatal respiratory distress syndrome (NRDS): A life-threatening condition in newborns characterized by the deficiency of surfactant, leading to severe respiratory distress and potentially fatal outcomes.
- Interstitial lung disease (ILD): A group of inflammatory conditions that affect the delicate lung tissue.
- Acute respiratory distress syndrome (ARDS): A severe and potentially fatal lung injury resulting from various causes, such as sepsis or trauma, that impairs gas exchange.
- Pulmonary alveolar proteinosis (PAP): A редкое заболевание caractérisé par l'accumulation de surfactant dans les alvéoles, causant une respiration difficultueuse.
Did you Know ?
Approximately 20% of cases of neonatal respiratory distress syndrome (NRDS) are attributable to mutations in the ABCA3 gene.
