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,...

Subviral Agents

Subviral Agents

Subviral agents are infectious entities that resemble viruses but lack one or more viral components, such as a capsid or essential replication machinery. These agents include viroids, prions, and satellites, each possessing distinct structural and functional characteristics that influence their mode of infection and replication.Viroids are the simplest subviral agents, consisting of circular, single-stranded RNA molecules without a protein coat. They exclusively infect plants, relying entirely...

Alternative RNA Splicing

Alternative RNA Splicing

Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...

What is Genetic Engineering?

What is Genetic Engineering?

You might also read

Related Articles

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

Sort by

Same author

Anti-mGluR5 encephalitis: distinctive clinical features and antibody patterns in the Chinese population.

Frontiers in immunology·2026

Same author

PrP<sup>C</sup>-facilitated cell signaling activates phospholipase Cɣ1 and triggers an Arc/Arg3.1 response in mouse and iPSC-derived human neurons.

Stem cell reports·2026

Same author

A single large-scale mitochondrial DNA deletion presenting as rapidly progressive dementia in a 35-year-old male.

NPJ dementia·2026

Same author

Neural embedding of frailty in cognitively unimpaired aging and dementia across Latin America.

Alzheimer's & dementia : the journal of the Alzheimer's Association·2026

Same author

The landscape of dementia research, diagnosis, treatment, and care in Latin America.

Alzheimer's & dementia : the journal of the Alzheimer's Association·2026

Same author

Retrospective Analysis of Burden of Illness of Congenital Pulmonary Valve Disease in a Large, Commercially Insured US Population.

Journal of health economics and outcomes research·2026

Same journal

Evolutionary and Biochemical Perspectives on the Incorporation and Utilization of Selenocysteine.

Cold Spring Harbor perspectives in biology·2026

Same journal

The Mitochondrial Calcium Uniporter: From Parts to Signaling Networks.

Cold Spring Harbor perspectives in biology·2026

Same journal

Growth Control and Beyond: Functional Diversity and Regulation of the Hippo Pathway in the Nervous System.

Cold Spring Harbor perspectives in biology·2026

Same journal

Structural Studies of Core Hippo Pathway Components.

Cold Spring Harbor perspectives in biology·2026

Same journal

The Hippo Pathway in Intestinal Regeneration, Fetal Reprogramming, and Tumorigenesis.

Cold Spring Harbor perspectives in biology·2026

Same journal

A Synergy between Genetics and Biochemistry Unravels the Molecular Architecture of the Hippo Signaling Pathway.

Cold Spring Harbor perspectives in biology·2026

See all related articles

Search research articles

Related Experiment Video

Updated: Feb 25, 2026

Protein Misfolding Cyclic Amplification of Prions

Protein Misfolding Cyclic Amplification of Prions

Published on: November 7, 2012

Genetic PrP Prion Diseases.

Mee-Ohk Kim¹, Leonel T Takada², Katherine Wong¹

¹Memory and Aging Center, Department of Neurology, University of California, San Francisco, San Francisco, California 94158.

Cold Spring Harbor Perspectives in Biology

|August 6, 2017

Summary

This summary is machine-generated.

Genetic prion diseases (gPrDs) result from PRNP gene mutations, presenting diverse clinical features and progression rates. This review classifies gPrDs into rapid, slow, or mixed types based on disease duration and phenotype.

More Related Videos

Prion Safety Laboratory Swipe Test

Prion Safety Laboratory Swipe Test

Published on: February 14, 2025

Investigating the Spreading and Toxicity of Prion-like Proteins Using the Metazoan Model Organism C. elegans

Investigating the Spreading and Toxicity of Prion-like Proteins Using the Metazoan Model Organism C. elegans

Published on: January 8, 2015

Related Experiment Videos

Last Updated: Feb 25, 2026

Protein Misfolding Cyclic Amplification of Prions

Protein Misfolding Cyclic Amplification of Prions

Published on: November 7, 2012

Prion Safety Laboratory Swipe Test

Prion Safety Laboratory Swipe Test

Published on: February 14, 2025

Investigating the Spreading and Toxicity of Prion-like Proteins Using the Metazoan Model Organism C. elegans

Investigating the Spreading and Toxicity of Prion-like Proteins Using the Metazoan Model Organism C. elegans

Published on: January 8, 2015

Area of Science:

Neurology
Genetics
Molecular Biology

Background:

Genetic prion diseases (gPrDs) encompass conditions like genetic Creutzfeldt-Jakob disease, Gerstmann-Sträussler-Scheinker disease, and fatal familial insomnia.
These diseases arise from mutations within the prion protein gene (PRNP), including missense, nonsense, and repeat insertions/deletions.

Purpose of the Study:

To review the broad spectrum of phenotypes associated with genetic prion diseases.
To classify gPrDs based on their typical rate of progression and duration.

Main Methods:

Literature review of studies on genetic prion diseases.
Classification of gPrDs into rapid, slow, and mixed progression types.

Main Results:

PRNP mutations lead to diverse clinical presentations, ancillary testing results, and neuropathological findings.
While most gPrDs progress rapidly with short survival, some present as slower ataxic or parkinsonian disorders.
Rare mutations can manifest as neuropsychiatric disorders with systemic symptoms, progressing over years to decades.

Conclusions:

Genetic prion diseases exhibit a wide range of clinical phenotypes and disease durations.
Classifying gPrDs by progression rate (rapid, slow, mixed) aids in understanding their diverse manifestations.