Genetic Basis of Alpha-1 Antitrypsin Deficiency in Emphysema

Introduction

Alpha-1 Antitrypsin (AAT) deficiency is a genetic disorder affecting lung function, primarily leading to emphysema. The deficiency is caused by mutations in the SERPINA1 gene, which disrupts the production of AAT, a crucial protein in protecting lung tissue from proteolytic enzymes.

Inheritance Patterns

AAT deficiency follows an autosomal codominant inheritance pattern. Individuals with two defective copies (ZZ genotype) are at highest risk for developing emphysema, while heterozygous carriers (MZ genotype) may have intermediate risk.

Population Genetics

The prevalence of AAT deficiency varies globally, with higher occurrences in European populations. Genetic screening and epidemiological studies have provided insights into regional distributions and risk factors associated with this condition.

Clinical Implications

Patients with severe AAT deficiency exhibit early-onset emphysema, particularly among smokers. Current treatments focus on augmentation therapy, smoking cessation, and symptom management.

Conclusion

Understanding the genetic basis of AAT deficiency is crucial for early diagnosis and personalized treatment strategies, improving patient outcomes and quality of life.