What is the MPZ gene?
What is the MPZ gene?
Normal Function. Collapse Section. The MPZ gene provides instructions for making a protein called myelin protein zero. It is the most abundant protein in myelin, a protective substance that covers nerves and promotes the efficient transmission of nerve impulses.
What is PMP22?
The PMP22 gene provides instructions for making a protein called peripheral myelin protein 22 (PMP22). This protein is found in the peripheral nervous system, which connects the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch, pain, heat, and sound.
What does protein zero do?
Myelin protein zero, absent in the central nervous system, is a major component of the myelin sheath in peripheral nerves. Mutations that disrupt the function of myelin protein zero can lead to less expression of myelin and degeneration of myelin sheath in the peripheral nervous system.
What is dejerine Sottas disease?
Dejerine-Sottas Disease (DS) – DS is also known as CMT type 3 and is an inherited peripheral neuropathy with an onset in infancy. The disorder is caused by a defect in one of the genes for myelin and is marked by severe, progressive weakness and sensory loss.
What chromosome is PMP22 on?
In human genome, PMP22 is located within the chromosome 17p11. 2. PMP22 is a 40kb gene that consists of six exons conserved in both humans and rodents (Figure 1A).
How does protein zero assemble compact myelin?
The C-terminal tail of P0 adheres apposing membranes together in the narrow cytoplasmic compartment of compact myelin, much like myelin basic protein (MBP). In mouse models, the absence of P0, unlike that of MBP or P2, severely disturbs myelination. Therefore, P0 is the executive molecule of PNS myelin maturation.
What causes myelin to break down?
Triggers. Demyelination is often caused by inflammation that attacks and destroys myelin. Inflammation can occur in response to an infection, or it can attack the body as part of an autoimmune process. Toxins or infections can also harm myelin or may interfere with its production.
What is the disease called DS?
Can CMT cause ataxia?
It is important to note that ataxia has also been reported in other CMT variants, such as X-linked CMTX5 [16] although cerebellar atrophy is otherwise rare in the CMT spectrum.
What are the diseases associated with the MPZ gene?
GeneCards Summary for MPZ Gene MPZ (Myelin Protein Zero) is a Protein Coding gene. Diseases associated with MPZ include Charcot-Marie-Tooth Disease, Demyelinating, Type 1B and Hypertrophic Neuropathy Of Dejerine-Sottas. Among its related pathways are Cell adhesion molecules and Neural Crest Differentiation.
How is the MPZ gene linked to cmt1b?
Charcot-Marie-Tooth disease type 1B (CMT1B; 118200 ), which is associated with greatly reduced nerve conduction velocity, was mapped to 1q21.3-q23 by family linkage studies and by deletion mapping. Mapping of the MPZ gene to the same region suggested that it might be the site of the causative mutations.
Where is MPZ myelin protein zero located in the body?
MPZ myelin protein zero [ (human)] Summary. This gene is specifically expressed in Schwann cells of the peripheral nervous system and encodes a type I transmembrane glycoprotein that is a major structural protein of the peripheral myelin sheath.
Can a mutation in MPZ cause axonal neuropathy?
MPZ gene showed a novel point mutation in the extracellular domain in two families with axonal CMT. Data confirm that a mutation in myelin protein zero can cause axonal neuropathy, in the absence of segmental demyelination, thus uncoupling the two pathological processes.
