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Related Concept Videos

Amyloid Fibrils03:03

Amyloid Fibrils

Amyloid fibrils are aggregates of misfolded proteins.  Under most circumstances, misfolded proteins are either refolded by chaperone proteins or degraded by the proteasome. However, in the case of a mutation or a disease, these proteins can accumulate to form large clusters and often further assemble to form elongated fibers, called 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 Fibrils03:03

Amyloid Fibrils

Amyloid fibrils are aggregates of misfolded proteins.  Under most circumstances, misfolded proteins are either refolded by chaperone proteins or degraded by the proteasome. However, in the case of a mutation or a disease, these proteins can accumulate to form large clusters and often further assemble to form elongated fibers, called 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...
Alzheimer Disease l: Introduction01:29

Alzheimer Disease l: Introduction

Alzheimer disease is a chronic, progressive, and irreversible neurodegenerative disorder and the most common cause of dementia in older adults. It leads to gradual neuronal loss, causing cognitive decline, behavioral changes, and loss of functional independence.Risk Factors and EtiologyThe disease is multifactorial. Age is the strongest risk factor, with prevalence doubling every 5 years after age 65. Genetic factors include mutations in genes such as APP, PSEN1, and PSEN2, which are associated...
Alzheimer Disease ll: Pathophysiology01:23

Alzheimer Disease ll: Pathophysiology

Alzheimer disease involves structural changes in the brain that begin long before symptoms appear. The most distinctive features are extracellular neuritic plaques and intracellular neurofibrillary tangles.Neuritic plaques form in the cerebral cortex and around blood vessels. These plaques contain a dense core of beta-amyloid (Aβ)—a toxic protein fragment that clumps outside neurons. The core is surrounded by damaged neuronal extensions, as well as reactive astrocytes and microglia. Abnormal...
Parkinson Disease ll: Pathophysiology01:24

Parkinson Disease ll: Pathophysiology

Parkinson disease (PD) is a progressive neurodegenerative disorder primarily affecting movement, with additional non-motor features. Its pathophysiology involves complex interactions among genetic susceptibility, environmental exposures, and cellular dysfunction, including dopaminergic neuron loss, protein aggregation, and mitochondrial impairment.Selective NeurodegenerationA key feature is the degeneration of dopaminergic neurons in the substantia nigra pars compacta, leading to reduced...
Huntington Disease l: Introduction01:21

Huntington Disease l: Introduction

Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...

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Related Experiment Video

Updated: May 10, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
06:33

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Published on: June 9, 2018

Familial amyloid polyneuropathy.

Ana Paula Barreiros1, Peter R Galle, Gerd Otto

  • 1Department of Internal Medicine I, Johannes Gutenberg University Mainz, Mainz, Germany. barreiro@mail.uni-mainz.de

Digestive Diseases (Basel, Switzerland)
|June 26, 2013
PubMed
Summary
This summary is machine-generated.

Familial amyloid polyneuropathy (FAP) is a genetic disorder caused by transthyretin (TTR) gene mutations. Liver transplantation and new therapies offer hope for managing this progressive disease.

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Area of Science:

  • Genetics
  • Neurology
  • Pharmacology

Background:

  • Familial amyloid polyneuropathy (FAP) is an autosomal dominant inherited disease.
  • It results from mutations in the transthyretin (TTR) gene, leading to amyloid deposition in various tissues.
  • The Val30Met mutation is the most common cause, with endemic regions in Portugal, Sweden, and Japan.

Purpose of the Study:

  • To summarize the current understanding of FAP, including its genetic basis, clinical manifestations, and treatment options.
  • To highlight the significance of liver transplantation as a curative treatment.
  • To introduce emerging pharmacological therapies for early-stage FAP.

Main Methods:

  • Review of existing literature on FAP genetics, pathology, and clinical studies.
  • Analysis of the role of liver transplantation in FAP management.
  • Evaluation of recent advancements in pharmacological treatments for FAP.

Main Results:

  • Over 100 TTR gene mutations are known, with Val30Met being the most prevalent.
  • Liver transplantation effectively halts disease progression and improves symptoms.
  • A new EMA-approved therapy shows promise for early-stage FAP, with ongoing research into other stabilizing drugs.

Conclusions:

  • FAP is a serious inherited condition requiring effective management strategies.
  • Liver transplantation remains a key treatment for advanced FAP.
  • Emerging pharmacological therapies represent a significant advancement, offering new hope for patients with early-stage disease.