Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

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...
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's Disease: Overview01:26

Alzheimer's Disease: Overview

Alzheimer's Disease (AD) is a continually advancing neurodegenerative disorder, distinguished by escalating memory loss, cognitive dysfunction, and dementia. The disease unfolds in three stages: preclinical, mild cognitive impairment (MCI), and dementia. Its onset is insidious, and the progression gradual, with the cause not well explained by other disorders.
The clinical diagnosis of AD hinges on the presence of memory and other cognitive impairments. Biomarkers, such as changes in Aβ and tau...
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...

You might also read

Related Articles

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

Sort by
Same author

TDP-43 subtypes shape transcriptomic signatures in Alzheimer's disease.

bioRxiv : the preprint server for biology·2026
Same author

Longitudinal Dynamics of Polyglutamine-Expanded ATXN3 in Biofluids of Spinocerebellar Ataxia Type 3.

Movement disorders : official journal of the Movement Disorder Society·2026
Same author

Trajectories of brain structure and function in young adult carriers of genetic frontotemporal dementia variants.

medRxiv : the preprint server for health sciences·2026
Same author

Clinical Associations of Cerebrospinal Fluid TMEM106B in Familial and Sporadic Frontotemporal Dementia.

JAMA neurology·2026
Same author

Emerging directions in tauopathy research.

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

Spinocerebellar ataxia type 10 in a Guatemalan family: Characterization and preliminary evaluation of neurofilament light chain as a biomarker.

Parkinsonism & related disorders·2026

Related Experiment Video

Updated: May 25, 2026

Establishment of a Surgically-induced Model in Mice to Investigate the Protective Role of Progranulin in Osteoarthritis
07:58

Establishment of a Surgically-induced Model in Mice to Investigate the Protective Role of Progranulin in Osteoarthritis

Published on: February 25, 2014

Progranulin axis and recent developments in frontotemporal lobar degeneration.

Alexandra M Nicholson1, Jennifer Gass, Leonard Petrucelli

  • 1Department of Neuroscience, Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, FL 32224, USA. rademakers.rosa@mayo.edu.

Alzheimer'S Research & Therapy
|January 27, 2012
PubMed
Summary

Frontotemporal lobar degeneration (FTLD) is a common dementia. Progranulin (PGRN) gene mutations cause FTLD-TDP by reducing PGRN levels, highlighting PGRN's role in neurodegeneration and potential therapeutic targets.

More Related Videos

Modified Yeast-Two-Hybrid System to Identify Proteins Interacting with the Growth Factor Progranulin
07:56

Modified Yeast-Two-Hybrid System to Identify Proteins Interacting with the Growth Factor Progranulin

Published on: January 17, 2012

Assessing Social Dominance in Mouse Models Using the Tube Test
03:34

Assessing Social Dominance in Mouse Models Using the Tube Test

Published on: June 6, 2025

Related Experiment Videos

Last Updated: May 25, 2026

Establishment of a Surgically-induced Model in Mice to Investigate the Protective Role of Progranulin in Osteoarthritis
07:58

Establishment of a Surgically-induced Model in Mice to Investigate the Protective Role of Progranulin in Osteoarthritis

Published on: February 25, 2014

Modified Yeast-Two-Hybrid System to Identify Proteins Interacting with the Growth Factor Progranulin
07:56

Modified Yeast-Two-Hybrid System to Identify Proteins Interacting with the Growth Factor Progranulin

Published on: January 17, 2012

Assessing Social Dominance in Mouse Models Using the Tube Test
03:34

Assessing Social Dominance in Mouse Models Using the Tube Test

Published on: June 6, 2025

Area of Science:

  • Neuroscience
  • Genetics
  • Dementia Research

Background:

  • Frontotemporal lobar degeneration (FTLD) is a leading cause of dementia in individuals under 65.
  • FTLD with transactive response DNA-binding protein inclusions (FTLD-TDP) is the most common subtype.
  • Autosomal dominant mutations in the progranulin gene (GRN) are a frequent cause of FTLD-TDP, leading to progranulin (PGRN) haploinsufficiency.

Purpose of the Study:

  • To review recent literature on GRN genetics and PGRN biology in FTLD-TDP.
  • To explore the role of PGRN in neural development, degeneration, and behavior.
  • To highlight potential therapeutic strategies for PGRN-related FTLD.

Main Methods:

  • Review of recent scientific literature on GRN genetics.
  • Analysis of cell culture experiments on PGRN regulators in the central nervous system.
  • Examination of animal models of PGRN deficiency.
  • Assessment of ongoing PGRN-related FTLD therapies.

Main Results:

  • GRN mutations causing PGRN haploinsufficiency are critical in FTLD-TDP pathogenesis.
  • PGRN plays a significant role in neural development, synaptic transmission, and behavior.
  • Identification of PGRN receptors and pharmacological regulators offers potential therapeutic avenues.

Conclusions:

  • Further research into PGRN biology is essential for understanding and treating FTLD-TDP.
  • PGRN haploinsufficiency presents a target for novel FTLD therapies.
  • Understanding PGRN's multifaceted roles is key to combating FTLD-related neurodegeneration.