Stay informed about the latest research supporting the Mark Egly Foundation's mission and discoveries. The scientific community is increasingly recognizing the broader role of Alpha-1 Antitrypsin (AAT) in health and disease.
Groundbreaking Connection: COPD and Alzheimer's Disease Share Common Pathways
Recent research published in Alzheimer's & Dementia (December 2024) identified common genetic variants and biological pathways between COPD and Alzheimer's disease, validating the Mark Egly Foundation's position that these conditions share underlying mechanisms.
Key Finding: The study of over 300,000 individuals in the UK Biobank revealed significant genetic overlap between COPD and Alzheimer's disease, suggesting shared inflammatory and protease-related mechanisms.
🔗 Common Genetic Variants and Pathways Between COPD and AD: UK Biobank Study - Alzheimer's & Dementia, December 2024
Why This Matters: This research supports our understanding that Alpha-1 Antitrypsin deficiency, which causes emphysema and COPD, may also contribute to neurological conditions like Alzheimer's through similar inflammatory pathways.
The Role of Inflammation in Alzheimer's Disease
A comprehensive review published in Alzheimer's & Dementia (December 2024) examines neuroinflammation's central role in Alzheimer's disease progression, emphasizing the importance of inflammatory control in preventing and treating neurodegenerative conditions.
🔗 Neuroinflammation in Alzheimer's Disease: The Role of the P2X7 Receptor - Alzheimer's & Dementia, December 2024
Connection to Our Work: Uncontrolled inflammation—driven by excess neutrophil elastase when Alpha-1 Antitrypsin is deficient—can damage brain tissue and contribute to neurological decline. This supports the Foundation's research into AAT's neuroprotective potential.
AAT Present in Alzheimer's Brain Lesions
Early research (1992) demonstrated that Alpha-1 Antitrypsin is present in the characteristic lesions of Alzheimer's disease, suggesting the body's attempt to control inflammation in affected brain tissue.
🔗 Alpha 1-antitrypsin and alpha 1-antichymotrypsin are in the lesions of Alzheimer's disease - Neuroreport, 1992
Significance: The presence of AAT in Alzheimer's lesions suggests the protein plays a role in the disease process—potentially as a protective response to inflammation. This early observation laid groundwork for understanding AAT's broader neurological importance.
Understanding Z-AAT Polymer Formation
Recent research (2022) in Science Advances revealed how misfolded Z-variant Alpha-1 Antitrypsin undergoes phase transitions in liver cells, providing insights relevant to multiple protein-misfolding diseases including Alzheimer's and Parkinson's.
🔗 Z-alpha(1)-antitrypsin polymers undergo phase transition in the endoplasmic reticulum - Science Advances, April 2022
Broader Implications: Understanding protein misfolding mechanisms in AATD helps illuminate similar processes in other neurodegenerative diseases, potentially leading to therapeutic strategies across multiple conditions.
Elevated AAT Levels Correlate with Alzheimer's Disease
Research has shown that Alpha-1 Antitrypsin levels are altered in Alzheimer's patients, with some studies finding elevated serum levels correlating with disease progression and cognitive decline.
🔗 Serum alpha 1-antitrypsin and alpha 2-macroglobulin in Alzheimer's and Binswanger's disease - Clinical Investigations, 1994
🔗 Characterization of alpha1-antitrypsin as a heme oxygenase-1 suppressor in Alzheimer plasma - Neurobiology of Disease, 2006
What This Reveals: Changes in AAT levels may serve as biomarkers for disease activity and could indicate when the body's protective mechanisms are overwhelmed by inflammatory processes.
New Treatment Approaches for Protein-Related Conditions
Research on fazirsiran for AATD-associated liver disease (2023) demonstrates promising RNA interference therapeutic approaches that could be adapted for other protein aggregation diseases.
🔗 RNAi therapeutics for diseases involving protein aggregation: fazirsiran for alpha-1 antitrypsin deficiency - Expert Opinion on Investigational Drugs, July 2023
Relevance: Advances in treating one protein-misfolding disease often translate to others. Therapeutic strategies for AATD may inform treatments for Alzheimer's, ALS, and other neurodegenerative conditions.
The scientific literature increasingly recognizes neutrophil elastase as a key driver of tissue damage in inflammatory and autoimmune conditions. Mark's identification of neutrophil elastase's role in 152 autoimmune diseases aligns with emerging research on protease-driven inflammation.
Key Research Themes:
Growing evidence links chronic inflammation to cancer development and spread. Alpha-1 Antitrypsin's anti-inflammatory properties may help prevent cancer initiation and inhibit metastasis.
Active Research Areas:
Recent research is expanding beyond the traditional "liver and lung" view of AATD, examining:
Studies demonstrating better outcomes with early augmentation therapy support the Foundation's advocacy for:
Mark Egly's 2020 patent filing represents original research connecting Alpha-1 Antitrypsin deficiency and supplementation to numerous disease processes previously thought unrelated.
Patent Highlights:
Impact: Medical professionals reviewing the patent are identifying new treatment opportunities for their patients and reconsidering diagnostic approaches for unexplained conditions.
Gene Therapy Advances
Augmentation Therapy Optimization
Biomarker Development
Expanded Clinical Applications
The Mark Egly Foundation actively seeks partnerships with:
Interested in collaborating? Contact us to discuss research partnerships and knowledge-sharing opportunities.
The growing body of research confirms what Mark Egly discovered through personal experience and intensive investigation:
Alpha-1 Antitrypsin is not just important for people with genetic deficiency—it's a critical protective protein with far-reaching implications for human health across multiple disease categories.
As more researchers investigate AAT's diverse roles, the medical community is beginning to recognize what the Mark Egly Foundation has advocated from the beginning: proper Alpha-1 Antitrypsin levels are essential for preventing and managing a wide range of diseases.
This page is regularly updated with new research findings. Last updated: December 2025
Have research to share? Contact the Mark Egly Foundation to discuss potentially relevant studies and collaborative opportunities.