Chapter 15, Problem 18Q

Summary Introduction

To explain: The reason why the mutant antitrypsin protein causes disease in the normal individual but the mutant antitrypsin synthesized in the laboratory is active as the normal antitrypsin.

Concept introduction: Antitrypsin is a protein that inhibits certain proteolytic enzymes like proteases. It is normally secreted to the bloodstream by the liver cells.  Deficiency of antitrypsin is a hereditary disorder that causes lung and liver diseases and the most common cause of lung disease in the children. Mutation occurs in the antitrypsin gene and leads to over production of proteases, and it causes lung and liver diseases.

Summary Introduction

To explain: How to distinguish different reasons for why mutant causes diseases.

Concept introduction: Antitrypsin is a protein that inhibits certain proteolytic enzymes like proteases. It is normally secreted to the bloodstream by the liver cells.  Deficiency of antitrypsin is a hereditary disorder that causes lung and liver diseases and the most common cause of lung disease in the children. Mutation occurs in the antitrypsin gene and leads to over production of proteases, and it causes lung and liver diseases.