Transthyretin Amyloidosis
Transthyretin Amyloidosis - Related Videos
06:33
Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
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Cited by 2 •
2018
Here, we present a protocol to confirm the presence of point mutation for the diagnosis of hereditary transthyretin amyloidosis, using Ala97Ser, the most common endemic mutation in Taiwan, as an example.
10:04
Imaging Amyloid Tissues Stained with Luminescent Conjugated Oligothiophenes by Hyperspectral Confocal Microscopy and Fluorescence Lifetime Imaging
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Cited by 27 •
2017
Amyloid deposition is a hallmark of different diseases and afflicts many different organs. This paper describes the application of luminescent conjugated oligothiophene fluorescence staining in combination with fluorescence microscopy techniques. This staining method represents a powerful tool for detection and exploration of protein aggregates in both clinical and scientific setups.
09:41
Performing and Processing FNA of Anterior Fat Pad for Amyloid
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Cited by 28 •
2010
Fat pad aspiration is a preferred, minimally invasive, and low cost approach as compared to other methods to detect amyloid for diagnosis of systemic amyloidosis. This video article demonstrates a procedural outline for performing fat pad aspiration with appropriate processing of the specimen for the optimal diagnostic outcome.
03:34
Assessing Social Dominance in Mouse Models Using the Tube Test
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Cited by 1 •
2025
This protocol describes a behavioral assay to evaluate social dominance in rodents using the tube test. Social dominance remains stable over time, and several models of developmental and neurological disorders exhibit robust social dominance abnormalities. Therefore, the tube test serves as a convenient outcome measure for mechanistic studies or preclinical therapeutic screening.
10:52
Correlative Light and Electron Microscopy to Study Microglial Interactions with β-Amyloid Plaques
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Cited by 30 •
2016
This article describes a protocol for visualizing amyloid Aβ plaques in Alzheimer's disease mouse models using methoxy-X04, which crosses the blood-brain barrier and selectively binds to β-pleated sheets found in dense core Aβ plaques. It allows pre-screening of plaque-containing tissue sections prior to immunostaining and processing for electron microscopy.
FAQs
Tetramer dissociation is a critical initiating event. Once the normal transthyretin tetramer separates, its less stable monomers can misfold, associate into amyloid fibrils, and accumulate outside cells. This sequence connects a change in protein stability with progressive tissue injury, because deposited fibrils can disrupt organ structure and impair function over time.
The disease can reflect either an inherited TTR variant or age-associated instability of otherwise normal transthyretin. These represent different sources of protein instability, even though both can lead to misfolding, fibril assembly, and tissue deposition. Distinguishing the underlying form is therefore important when interpreting genetic results and specialized protein analyses during clinical evaluation.
Amyloid deposits can accumulate in more than one tissue, particularly the heart and peripheral nerves. In the heart, deposits impair tissue structure and function, whereas peripheral-nerve involvement contributes to neurologic disease. This distribution helps explain why assessment must consider both cardiac and neurologic findings rather than relying on a single organ system.
These treatment strategies act at different points in the pathogenic sequence. Transthyretin stabilizers are intended to limit the instability that promotes fibril formation, while gene-silencing approaches aim to reduce transthyretin production. Both seek to decrease ongoing amyloid formation and slow neurologic or cardiac decline, but they address the process through distinct mechanisms.
Evaluation combines several types of evidence rather than depending on one test. Clinicians integrate symptoms with imaging, genetic testing, and tissue or specialized protein analysis. This multimodal approach can document organ involvement while also helping distinguish disease types, such as inherited disease from age-associated disease, which may require different interpretation and management considerations.
Each modality answers a different clinical question. Symptoms identify possible functional involvement, imaging helps assess affected organs, genetic testing can detect inherited TTR variants, and tissue or specialized protein analysis helps characterize amyloid disease. Together, these findings support a more complete assessment of disease distribution and type than any single source of information.