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The Department of Genetic Medicine at Weill Cornell leads a dynamic and innovative translational research program, advancing diverse fields such as Genetic Therapy and Personalized Medicine.
Alpha 1-antitrypsin deficiency and liver disease.
| Publication Type | Review |
| Authors | Birrer P, McElvaney N, Chang-Stroman L, Crystal R |
| Journal | J Inherit Metab Dis |
| Volume | 14 |
| Issue | 4 |
| Pagination | 512-25 |
| Date Published | 01/01/1991 |
| ISSN | 0141-8955 |
| Keywords | Liver Diseases, alpha 1-Antitrypsin Deficiency |
| Abstract | Alpha 1-antitrypsin (alpha 1AT) deficiency, one of the most common lethal hereditary disorders among Caucasians, is associated with emphysema in adults, while in children it is associated with liver disease. Produced in the liver and released into the plasma, alpha 1AT serves as the body's major inhibitor of neutrophil elastase, a powerful proteolytic enzyme capable of degrading extracellular structural proteins. The pathogenesis of the liver disease associated with alpha 1AT deficiency is not as well understood, but is clearly linked to specific mutations in coding exons of the alpha 1AT gene, and the resulting accumulation of alpha 1AT within hepatocytes. At present, therapy for the liver disease associated with alpha 1AT deficiency is symptomatic, with liver transplantation as a last resort. New strategies are being developed to suppress the accumulation of alpha 1AT by transferring the normal gene into the liver. |
| DOI | 10.1007/BF01797921 |
| PubMed ID | 1749216 |