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May 8, 2025 – Researchers at National Jewish Health have developed a groundbreaking molecular diagnostic test that significantly improves the detection of Alpha-1 Antitrypsin Deficiency (AATD), a major genetic cause of chronic obstructive pulmonary disease (COPD). This advancement promises earlier and more accurate diagnosis, potentially transforming patient outcomes for thousands affected by this underrecognized condition.
A Major Step Forward in Genetic COPD Diagnosis
AATD is a hereditary disorder characterized by insufficient production of alpha-1 antitrypsin (AAT), a protein that protects the lungs and liver from damage. While COPD is often linked to environmental factors such as smoking, AATD represents a genetic form that can lead to severe respiratory and liver complications if left untreated. Affecting approximately 100,000 Americans, AATD remains widely underdiagnosed, delaying critical interventions.
The new diagnostic tool, a 23-single nucleotide polymorphism (SNP) alpha-1 antitrypsin assay, was detailed in a recent study published in CHEST Pulmonary. Unlike traditional tests that primarily detect only the most common S and Z mutations, this assay identifies 20 pathogenic mutations in the SERPINA1 gene, including rarer variants such as F, I, and some null alleles. It also detects two normal variants and an additional variant currently under investigation.
Superior Accuracy and Speed
Validated on 373 biological samples, the assay demonstrated 100% accuracy in identifying disease-causing mutations, outperforming existing methods like isoelectric focusing gel tests. This rapid and comprehensive genotyping approach enables clinicians to diagnose AATD more reliably and promptly.
Dr. Yongbao Wang, lead researcher, emphasized the test’s potential impact: “Our test provides an accurate, comprehensive and rapid genotyping solution that can be implemented as a frontline diagnostic tool.” Sharon Kuss-Duerkop, Ph.D., senior scientist at National Jewish Health, added, “With quicker and more reliable results, we can diagnose AATD earlier and start appropriate treatments, potentially preventing severe lung and liver complications.”
Clinical Integration and Future Applications
Since 2022, the 23-SNP AAT assay has been integrated into routine clinical practice at National Jewish Health’s Advanced Diagnostic Laboratories. The test is now accessible to clinicians nationwide, offering a valuable resource for improving patient care.
Researchers also envision expanding the assay’s use to newborn screening programs and at-home sample collection, which could further enhance early detection efforts and reduce the burden of undiagnosed AATD.
Disclaimer
This article is based on information from a study published in CHEST Pulmonary and reviewed by Medical Xpress editorial staff. While the test shows promising results, patients should consult healthcare professionals for personalized medical advice and diagnosis. The availability and use of the assay may vary by location and clinical setting.
Source:
DeCurtis EK, Wang Y, Kuss-Duerkop S, et al. Accurate Identification of Pathogenic Mutations Conferring α1-Antitrypsin Deficiency by a Novel Multiplexed Molecular Assay. CHEST Pulmonary. 2024. DOI: 10.1016/j.chpulm.2024.100076
Retrieved May 8, 2025, from Medical Xpress
