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Updated: Apr 25, 2026
06:33
Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
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[Hereditary transthyretin amyloidosis]
1Neurologische Klinik, Universität Heidelberg, Im Neuenheimer Feld 400, 69120, Heidelberg, Deutschland, ernst.hund@med.uni-heidelberg.de.
Der Nervenarzt
|August 16, 2014
Summary
Hereditary amyloidosis, often caused by transthyretin gene mutations, is a fatal multisystem disease leading to progressive organ damage. New treatments like tafamidis offer hope for managing familial amyloid polyneuropathy.
Area of Science:
- Genetics and Molecular Biology
- Pathology
- Neurology
Context:
- Hereditary amyloidosis is a fatal autosomal dominant disorder.
- Characterized by extracellular deposition of misfolded proteins, primarily due to transthyretin gene mutations.
- Leads to progressive organ damage and multisystemic failure.
Purpose:
- To provide an overview of hereditary amyloidosis.
- To discuss its genetic basis, clinical manifestations, and current therapeutic strategies.
- To highlight recent advancements in treatment.
Summary:
- Hereditary amyloidosis results from misfolded protein deposition, commonly linked to transthyretin gene mutations.
- Key manifestations include familial amyloid polyneuropathy (FAP) affecting nerves and potentially the heart, and familial amyloid cardiomyopathy (FAC).
- Established treatments include liver transplantation, with newer options like tafamidis showing promise for early-stage polyneuropathy.
Impact:
- Advances understanding of hereditary protein folding diseases.
- Informs clinical practice regarding diagnosis and management of amyloidosis.
- Highlights the potential for targeted therapies in genetic disorders.
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