What myelin sheath is, the different genes affected in each type of Charco-Marie-Tooth disease symptoms and what they do.

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This is the hereditary Charcot-Marie-Tooth disease symptoms.

I have Charco-Marie-Tooth disease symptoms Type 1

On this page explains what myelin sheath is, what the different genes are that are affected in each type of Charco-Marie-Tooth disease symptoms.

Scroll down the page to go to each disease Type.

 

What is myelin sheath

The myelin sheath is a protective covering around nerve fibers that facilitates faster transmission of electrical impulses in the nervous system.

It is composed of lipids (fats) and proteins, and its main function is to insulate and enhance the efficiency of signal conduction along the nerve cells.

Charcot-Marie-Tooth disease symptoms type 1. The genes that are affected, what the genes are and what they do

PMP22 gene

The PMP22 gene encodes a protein called peripheral myelin protein 22.

Mutations in this gene are associated with various neuropathies, including Charcot-Marie-Tooth disease, which affects the peripheral nerves.

PMP22 plays a crucial role in the structure and function of myelin, the protective covering of nerve fibers.

Changes in the PMP22 gene can lead to abnormal myelin formation and contribute to neurological disorders.

Swann cells

Swann cells, also known as Schwann cells, are a type of glial cell that provides support and insulation to neurons in the peripheral nervous system (PNS).

They form the myelin sheath, a fatty layer that surrounds and insulates axons, facilitating the efficient transmission of nerve impulses.

Schwann cells also play a role in nerve regeneration after injury in the peripheral nervous system.

Charco-Marie-Tooth disease symptoms Type 2, what genes are affected, what the genes are and what they do

Axon

The axon is a long, slender extension of a nerve cell (neuron) that conducts electrical impulses away from the cell body to other neurons, muscles, or glands.

It serves as the primary transmission line for signaling in the nervous system, facilitating communication between different parts of the body.

MFN2 gene 

The MFN2 gene provides instructions for making a protein involved in mitochondrial fusion, a process crucial for maintaining healthy cell function.

Mutations in this gene can lead to Charcot-Marie-Tooth disease, a neurological disorder affecting peripheral nerves.

Understanding MFN2 helps researchers explore potential treatments for related conditions.

RAB7A gene

The Rab7a gene encodes a protein involved in intracellular membrane trafficking, specifically in the late endocytic pathway.

It plays a crucial role in the transport of vesicles between different membrane compartments within cells.

Mutations in this gene can be associated with certain diseases, including Charcot-Marie-Tooth type 2B neuropathy.

LITAF Protien

LITAF, or lipopolysaccharide-induced TNF-alpha factor, is a protein associated with the immune system.

It plays a role in the regulation of tumor necrosis factor-alpha (TNF-alpha), a cytokine involved in inflammation.

LITAF is known for its involvement in the cellular response to lipopolysaccharide (LPS), a component of "bacterial" cell walls that can trigger immune reactions.

Research suggests that LITAF may contribute to inflammatory processes and be implicated in certain diseases.

Lipopolysaccharide

Lipopolysaccharide (LPS) molecule found in the outer membrane of gram-negative bacteria.

It consists of a lipid (lipid A),a core polysaccharide, and an O-antigen side chain. LPS plays a crucial role in the structure of the bacterial outer membrane and can trigger immune responses in animals, including humans.

It is often referred to as an endotoxin because its release during bacterial infection can lead to inflammatory responses.

Gars gene

Glycyl-tRNA synthetase (GARS) is an enzyme involved in protein synthesis.

It plays a crucial role in attaching the amino acid glycine to its corresponding transfer RNA (tRNA) molecule, ensuring accurate translation of the genetic code into proteins.

Mutations in the GARS gene have been associated with certain neurological disorders, such as Charcot-Marie-Tooth disease, which affects the peripheral nerves.

Research on GARS and related genetic conditions continues to contribute to our understanding of these disorders.

Charco-Marie-Tooth disease symptoms Type 3, what genes are affected, what the genes are and what they do

Dejerine-Sottas syndrome is a rare genetic disorder that affects the peripheral nerves, leading to progressive muscle weakness and sensory loss.

It is a type of Charcot-Marie-Tooth disease. Symptoms usually appear in early childhood and can include difficulty walking, muscle atrophy, and reduced sensation in the limbs.

The syndrome is caused by mutations in genes associated with the myelin sheath, the protective covering of nerve fibers.

Treatment aims to manage symptoms and improve quality of life.

PMP22 gene

The PMP22 gene encodes a protein called peripheral myelin protein 22, which is important for the formation and maintenance of myelin in the peripheral nervous system.

Mutations in this gene are associated with certain neuropathies, including Charcot-Marie-Tooth disease.

Charco-Marie-Tooth disease symptoms Type 4, what genes are affected, what the genes are and what they do

GDAP1 gene

The GDAP1 gene encodes a protein involved in the maintenance and function of peripheral nerves. Mutations in GDAP1 can lead to certain types of Charcot-Marie-Tooth disease, a neurological disorder affecting peripheral nerves.

SH3TC2 gene

The SH3TC2 gene is associated with Charcot-Marie-Tooth disease, a hereditary neuropathy affecting the peripheral nerves. Mutations in this gene can lead to impaired nerve function, causing muscle weakness and sensory loss in the extremities. 

What causes myelin sheath damage

Several factors can damage the myelin sheath, the protective covering around nerve fibers. These include autoimmune diseases, genetic disorders, infections, inflammatory conditions, and certain environmental toxins. Additionally, physical trauma and some medications may contribute to myelin damage.

PMP22 gene

The PMP22 gene provides instructions for making a protein called peripheral myelin protein 22. This protein is a critical component of myelin, the protective covering of nerve fibers.

Mutations in the PMP22 gene are associated with various peripheral neuropathies, including Charcot-Marie-Tooth disease, which is characterized by progressive weakness and atrophy, particularly in the muscles of the lower legs and feet.

The PMP22 gene's role in maintaining the integrity of myelin makes it crucial for proper nerve function in the peripheral nervous systems.

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