Genetics of obstructive airways disease cystic fibrosis, α-1 antitrypsin deficiency, and Hermansky-Pudlak syndrome

Eva Charlotte Halapi, Hakon Hakonarson*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

Abstract

Lung disease caused by CF and A-1AT deficiency continues to be the leading cause of morbidity and mortality, resulting in substantial social and economic burden. Unfortunately, the treatment of these conditions remains unsatisfactory. Although the discovery of the disease genes underlying CF and A-1AT deficiency have led to major advances in the understanding of the causes and pathogenesis of these conditions, there is still a lot of uncertainty of the precise interaction of the CFTR and A-1AT genes with environmental factors such as infection and smoking. Better understanding of gene-environment interactions is needed before the method in which genetic variants of the CFTR and A-1AT genes contribute to chronic pulmonary disease is fully understood. Improved understanding through integrative multidisciplinary research of the molecular pathways that regulate intact lung physiology and function with respect to mucociliary clearance, protease-antiprotease balance, lysosomal function, and host defence might lead to the development of novel therapeutic strategies and diagnostic tests.

Original languageEnglish
Pages (from-to)243-260
Number of pages18
JournalImmunology and Allergy Clinics of North America
Volume22
Issue number2
DOIs
Publication statusPublished - 2002
Externally publishedYes

Other keywords

  • Airway diseases
  • Cystic fibrosis
  • Hermansky-Pudlak syndrome
  • Genes

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