Related Experiment Video
Updated: Aug 24, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
The hereditary amyloidoses
1Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, 635 Barnhill Drive, MS-128, Indianapolis, IN 46202-5126, USA. mdbenson@iupui.edu
Abstract:
Hereditary amyloidosis is, in general, a systemic condition related to multiple organ system involvement by beta-structured protein deposits. As such, it often mimics the more common forms of systemic amyloidosis: immunoglobulin light chain (AL, primary) and reactive (AA, secondary). The challenge diagnostically is to recognize hereditary amyloidosis as a distinct entity and then to determine the specific type of genetic disease. There are several types of hereditary amyloidosis and precise diagnosis is essential for proper therapy and genetic counselling. This chapter strives to present the subject of hereditary amyloidosis in a way which facilitates understanding of the disease, of the means for diagnosis, of the present and possible future therapies, and of the importance of combined basic and medical research.
Related Concept Videos
Lysosomal Hydrolases
Inborn Errors of Metabolism
Amyloid Fibrils
Amyloid deposits were observed as early as 1639 in the liver and the spleen. In 1854, Rudolph Virchow performed iodine staining, normally used to...
Amyloid Fibrils
Amyloid deposits were observed as early as 1639 in the liver and the spleen. In 1854, Rudolph Virchow performed iodine staining, normally used to...
Glucose Transporters
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
Proteoglycans

