Recent progress of pathogenesis and treatment in alpha 1-antitrypsin deficiency

I. Ozaki, Mark A Zern

Research output: Contribution to journalArticlepeer-review


alpha 1-Antitrypsin (alpha 1-AT) deficiency, one of the most common hereditary disorders that mainly affects the lung and liver in Caucasian people, is caused by mutations of alpha 1-AT gene. Decrease of serum alpha 1-AT concentration is directly responsible for lung emphysema, replacement of plasma-derived alpha 1-AT concentrate is administered to patients of alpha 1-AT deficiency with lung emphysema, and lung transplantation is employed for end-stage lung emphysema. Augmentation therapy is not adequate for alpha 1-AT deficiency with liver disease, because liver injury is caused by accumulation of mutated alpha 1-AT protein in hepatocytes. Currently liver transplantation is the only treatment for severe liver cirrhosis. To correct the genetic defects of alpha 1-AT gene, several approaches for gene therapy are under investigation in vitro and in vivo animal models.

Original languageEnglish (US)
Pages (from-to)2145-2151
Number of pages7
JournalNippon rinsho. Japanese journal of clinical medicine
Issue number9
StatePublished - 1999
Externally publishedYes


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