Alpha-1 Antitrypsin (AAT) is a vital protein produced primarily in the liver that circulates throughout your bloodstream, serving as one of your body's most important protectors against tissue damage. This remarkable protein belongs to the serpin superfamily—a group of proteins that regulate critical biological processes—and is encoded by the SERPINA1 gene in humans.
Think of Alpha-1 Antitrypsin as your body's internal shield. As a protease inhibitor, AAT neutralizes powerful enzymes released by white blood cells during inflammation and infection. Without this protective protein, these enzymes—particularly one called neutrophil elastase—can damage healthy tissues throughout your body.
For years, the medical community primarily associated Alpha-1 Antitrypsin with lung protection. However, groundbreaking research—including work pioneered by Mark Egly—is revealing that AAT plays a far more extensive role in human health than previously understood.
Alpha-1 Antitrypsin provides protective antiprotease activity throughout your entire body, not just in the lungs. This protein acts as a safeguard for multiple organ systems, influencing inflammation regulation, tissue repair, and immune function in ways we're only beginning to fully comprehend.
Understanding the comprehensive role of Alpha-1 Antitrypsin helps explain why deficiency of this protein can affect so many different parts of the body—from the lungs and liver to the skin and blood vessels. It also opens new possibilities for treatment approaches and therapeutic applications that extend far beyond traditional thinking.
The Mark Egly Foundation is committed to advancing research that explores the full scope of Alpha-1 Antitrypsin's protective mechanisms, supporting the development of innovative treatments that can help millions of people affected by AAT deficiency and related conditions.