Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Amyloid Fibrils

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 Fibrils

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 ll: Pathophysiology

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...

Alzheimer Disease l: Introduction

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...

Parkinson Disease ll: Pathophysiology

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...

Diabetic Neuropathy

Diabetic Neuropathy

DefinitionDiabetic neuropathy is nerve damage caused by long-standing diabetes mellitus. It results directly from prolonged high blood sugar levels.PathophysiologyThe pathophysiology of diabetic neuropathy involves both metabolic and vascular disturbances triggered by chronic hyperglycemia.Metabolic injury: Elevated glucose levels activate the polyol pathway within nerve cells, leading to the accumulation of sorbitol and fructose. This increases oxidative stress, disrupts normal nerve...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by

Same author

Analysis of Clinical Characteristics and Rehabilitation Outcomes in Elderly Patients with Parkinson's Disease: A Retrospective Study.

Geriatrics (Basel, Switzerland)·2025

Same author

Accelerometer-Based Gait Analysis as a Predictive Tool for Mild Cognitive Impairment in Older Adults.

Sensors (Basel, Switzerland)·2025

Same author

A Case of TAPP (Transabdominal Preperitoneal Repair) for Bilateral Inguinal Hernias After Femoral-Femoral Artery Bypass on Antiplatelet Therapy.

Asian journal of endoscopic surgery·2025

Same author

[Discussion About "Chronic Feature of Minamata Disease" Based on Dr. Takaoka's Response].

Nihon eiseigaku zasshi. Japanese journal of hygiene·2025

Same author

Long-term outcomes of S-1 monotherapy in stage IIIA gastric cancer with small tumors and low nodal involvement.

Langenbeck's archives of surgery·2025

Same author

Preoperative risk factors for 90-day postoperative mortality outcome in patients with non-occlusive mesenteric ischemia.

Langenbeck's archives of surgery·2024

Search research articles

Related Experiment Video

Updated: Jun 1, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

Published on: June 9, 2018

[Familial amyloid polyneuropathy].

Taro Yamashita¹, Yukio Ando, Makoto Uchino

¹Department of Neurology, Kumamoto University, Kumamoto, Japan.

Brain and Nerve = Shinkei Kenkyu No Shinpo

|May 27, 2011

Summary

This summary is machine-generated.

Familial amyloid polyneuropathy (FAP) is a genetic disorder causing amyloid buildup in nerves and organs. Research is exploring small molecules to inhibit this amyloid deposition, offering new therapeutic avenues.

More Related Videos

Real-Time Fluorescent Measurement of Synaptic Functions in Models of Amyotrophic Lateral Sclerosis

Real-Time Fluorescent Measurement of Synaptic Functions in Models of Amyotrophic Lateral Sclerosis

Published on: July 16, 2021

Modeling Charcot-Marie-Tooth Disease In Vitro by Transfecting Mouse Primary Motoneurons

Modeling Charcot-Marie-Tooth Disease In Vitro by Transfecting Mouse Primary Motoneurons

Published on: January 7, 2019

Related Experiment Videos

Last Updated: Jun 1, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

Published on: June 9, 2018

Real-Time Fluorescent Measurement of Synaptic Functions in Models of Amyotrophic Lateral Sclerosis

Real-Time Fluorescent Measurement of Synaptic Functions in Models of Amyotrophic Lateral Sclerosis

Published on: July 16, 2021

Modeling Charcot-Marie-Tooth Disease In Vitro by Transfecting Mouse Primary Motoneurons

Modeling Charcot-Marie-Tooth Disease In Vitro by Transfecting Mouse Primary Motoneurons

Published on: January 7, 2019

Area of Science:

Genetics
Biochemistry
Neurology

Context:

Familial amyloid polyneuropathy (FAP) is an autosomal dominant inherited disorder.
Systemic accumulation of polymerized transthyretin (TTR) in peripheral nerves and organs characterizes FAP.
FAP, once thought endemic, is now recognized globally with over 100 TTR gene mutations identified.

Purpose:

To investigate the underlying mechanisms of FAP.
To explore potential therapeutic strategies for FAP.
To understand the diverse phenotypes associated with TTR gene mutations.

Summary:

FAP involves the deposition of abnormal transthyretin (TTR) protein, leading to polyneuropathy and organ damage.
Liver transplantation can halt the production of amyloidogenic TTR but doesn't always prevent amyloid deposition from normal TTR.
Current research focuses on small organic molecules to inhibit TTR fibril formation and amyloid deposition.

Impact:

Advances understanding of hereditary amyloidosis and TTR protein misfolding.
Highlights the global prevalence and genetic heterogeneity of FAP.
Paves the way for novel small-molecule therapies targeting TTR amyloidogenesis.