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

Nervous Tissue: Myelin

Nervous Tissue: Myelin

The myelin sheath is a multilayered lipid and protein covering that insulates the axon of a neuron, enhancing the speed of nerve impulse conduction. Axons without this sheath are referred to as unmyelinated. Two types of neuroglia, Schwann cells in the peripheral nervous system (PNS) and oligodendrocytes in the central nervous system (CNS) are responsible for producing myelin sheaths.
Schwann cells begin to form myelin sheaths around axons during fetal development. They wrap around a small...

Myasthenia Gravis ll: Pathophysiology

Myasthenia Gravis ll: Pathophysiology

The disease process of myasthenia gravis begins at the neuromuscular junction, where antibodies attack key proteins needed for muscle activation. This immune reaction weakens signal transmission, leading to the characteristic muscle fatigue and weakness that define the condition.Immune-Mediated DamageIn most individuals, antibodies target acetylcholine receptors (AChRs) on the postsynaptic membrane of muscle cells. By blocking acetylcholine binding, these antibodies prevent the nerve signal...

Multiple Sclerosis l: Introduction

Multiple Sclerosis l: Introduction

Multiple sclerosis is a chronic autoimmune disease of the central nervous system (CNS) that affects the brain, spinal cord, and optic nerves. It is an inflammatory demyelinating disorder and a leading cause of neurological disability in young adults.EpidemiologyMS commonly begins between 20 and 40 years of age and is twice as common in women. Its exact cause remains unclear, but genetic susceptibility contributes, with higher risk in first-degree relatives and identical twins. A greater...

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...

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...

Pleiotropy

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...

You might also read

Related Articles

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

Sort by

Same author

Protein-enhanced small molecule disruptors of ordered membrane domains.

Proceedings of the National Academy of Sciences of the United States of America·2026

Same author

Stable and Tunable Expression of Human Peripheral Myelin Protein 22 in Rat Schwann Cells.

The Journal of biological chemistry·2026

Same author

High-throughput screening identifies a trafficking corrector for long QT syndrome-associated KCNQ1 variants.

JCI insight·2026

Same author

Pharmacological tools to modulate ordered membrane domains and order-dependent protein function.

Communications chemistry·2026

Same author

Classification models distinguish functional and trafficking effects of KCNQ1 variants to enhance variant interpretation.

bioRxiv : the preprint server for biology·2025

Same author

High Throughput Screening Identifies a Small Molecule Trafficking Corrector for Long-QT Syndrome Associated KCNQ1 Variants.

bioRxiv : the preprint server for biology·2025

Search research articles

Related Experiment Video

Updated: May 21, 2026

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

Peripheral Myelin Protein-22 and Its Prominence in Charcot-Marie-Tooth Disease.

Charles R Sanders^1,2,3, Bruce D Carter^1,4, Mason C Wilkinson^1,2,3

¹Department of Biochemistry, Vanderbilt University School of Medicine - Basic Sciences, Nashville, Tennessee 37240, United States.

Chemical Reviews

|May 20, 2026

Summary

Charcot-Marie-Tooth disease (CMT), a prevalent genetic neuropathy, lacks effective treatments. This study explores peripheral myelin protein 22 (PMP22) in CMT, focusing on its role and therapeutic potential.

More Related Videos

In Vivo Electrophysiological Measurement of Compound Muscle Action Potential from the Forelimbs in Mouse Models of Motor Neuron Degeneration

In Vivo Electrophysiological Measurement of Compound Muscle Action Potential from the Forelimbs in Mouse Models of Motor Neuron Degeneration

Published on: June 15, 2018

Comprehensive Autopsy Program for Individuals with Multiple Sclerosis

Comprehensive Autopsy Program for Individuals with Multiple Sclerosis

Published on: July 19, 2019

Related Experiment Videos

Last Updated: May 21, 2026

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

In Vivo Electrophysiological Measurement of Compound Muscle Action Potential from the Forelimbs in Mouse Models of Motor Neuron Degeneration

In Vivo Electrophysiological Measurement of Compound Muscle Action Potential from the Forelimbs in Mouse Models of Motor Neuron Degeneration

Published on: June 15, 2018

Comprehensive Autopsy Program for Individuals with Multiple Sclerosis

Comprehensive Autopsy Program for Individuals with Multiple Sclerosis

Published on: July 19, 2019

Area of Science:

Neuroscience
Genetics
Cell Biology

Background:

Charcot-Marie-Tooth disease (CMT) is a common, debilitating genetic peripheral neuropathy with no current cure.
Over half of CMT cases stem from genetic variations affecting peripheral myelin protein 22 (PMP22).
PMP22 is crucial for peripheral nervous system myelination, with altered expression or sequence causing different CMT subtypes.

Purpose of the Study:

To investigate the structure, function, and trafficking of PMP22.
To elucidate the role of PMP22 in the pathogenesis of CMT, particularly CMT1A.
To explore potential therapeutic strategies for PMP22-related CMT.

Main Methods:

Review of existing literature on PMP22.
Analysis of genetic variations in PMP22 associated with CMT.
Exploration of PMP22's cellular mechanisms in Schwann cells.

Main Results:

PMP22 variations lead to peripheral neuropathies like CMT and HNPP.
Overexpression of wild-type PMP22 in Schwann cells is a key driver of CMT1A, potentially causing proteostasis stress.
Understanding PMP22's function is critical for developing CMT treatments.

Conclusions:

PMP22 is a central player in the development of CMT.
Targeting PMP22 pathways offers a promising avenue for CMT therapeutic development.
Further research into PMP22 biology is essential for effective intervention.