Related Experiment Video
Updated: Jun 2, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
Rate of progression of transthyretin amyloidosis
Merrill D Benson1, Shawn D Teague, Richard Kovacs
1Department of Pathology and Laboratory Medicine, School of Medicine, Indiana University, Indianapolis, USA. mdbenson@iupui.edu
Abstract:
Hereditary transthyretin (TTR) amyloidosis is an adult-onset disease characterized mainly by peripheral neuropathy and cardiomyopathy. Although disease progression is usually 5 to 15 years from time of diagnosis to death, no specific measurements of disease progression have been identified. The present study was designed to identify objective parameters to measure progression of hereditary TTR amyloidosis and determine if these parameters would show significant change within 1 year. Nine patients with biopsy-proved TTR amyloidosis and evidence of cardiac involvement were studied at baseline, 6 months, and 12 months by cardiac magnetic resonance imaging (MRI), electrocardiogram, and echocardiogram. Neurologic impairment score and electromyogram were determined at baseline and 12 months. Left ventricular mass determined by MRI and echocardiogram showed significant change at 12-month examination (p = 0.005 and p = 0.0009, respectively). Electrocardiogram and neurologic impairment score did not show significant change at 12 months. Measurement of left ventricular mass by MRI and echocardiographic techniques showed significant change in hereditary TTR cardiac amyloidosis within 1 year. In conclusion, these methods provide a means to clinically monitor progression of hereditary TTR amyloidosis and determine efficacy of therapeutic interventions.
More Related Videos
Related Concept Videos
Tumor Progression
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...
Tumor Progression
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...
Huntington Disease l: Introduction
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...
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
Alzheimer Disease ll: Pathophysiology

