Join: Charcot marie tooth inheritance pattern
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| SOCIAL STRATIFICATION MEANING | 16 hours ago · Charcot-Marie-Tooth Disease. Ciliopathy. Colorectal cancer. Congenital disorders of glycosylation. Cystic fibrosis. Epilepsy and seizure disorders. Episodic ataxia. Fanconi Syndrome. 5qmicroduplication. Freeman Sheldon Syndrome, a skeletal muscle contracture syndromes. 13 hours ago · Ex: small duplication is Charcot Marie -tooth disease where there is numbness in hands and feet that is caused by a small duplication on short arm of chromosome 1. The majority of these small chromosomal duplications have no phenotypic effect 2. Gene duplications provide raw material for the addition of more genes into a species 3. As the silencing of Charcot-Marie-Tooth disease genes have been associated with DNA damage response, it is tempting to speculate that a deregulation of this pathway may be linked to the axonal degeneration observed in MORC2 neuropathy, thus adding a new pathogenic mechanism to the long list of causes of Charcot-Marie-Tooth digitales.com.au: Field Application Scientist en . |
| Charcot marie tooth inheritance pattern | 2 days ago · Charcot-Marie-Tooth disease (CMT) is a clinically and genetically heterogeneous condition characterized by peripheral axon degeneration with subsequent motor and sensory deficits. 1 day ago · diagnoses include Charcot-Marie-Tooth type 1 and 2, ataxia with vitamin E deficiency, ataxia-oculomotor apraxia type 1 and 2 and other early-onset ataxias. Visit the Orphanet disease page for more information, and is inherited in an autosomal recessive pattern.[1] Last updated: 5/22/ Symptoms Symptoms Listen Symptoms usually begin between the ages of 5 and 15 but can, on . 3 days ago · Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neurological disorders, and nearly all cases are inherited. CMT damages the body's peripheral nerves, making them unable to activate muscles or relay sensory informaton from the . |
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Several CMT gene products function in endosomal sorting and trafficking to the lysosome, suggesting that defects in this cellular pathway might present a common pathogenic mechanism for these conditions. Mouse Lrsam1 is abundantly expressed in the motor and sensory neurons of the peripheral nervous system.
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Both homozygous and heterozygous mice have largely normal neuromuscular performance and only a very mild neuropathy phenotype with age. However, Lrsam1 mutant mice are more sensitive to challenge with acrylamide, a neurotoxic agent that causes axon degeneration, indicating that the axons in the mutant mice are indeed compromised.
In transfected cells, LRSAM1 primarily localizes in pathern perinuclear compartment immediately beyond the Link and shows little colocalization with components of the endosome to lysosome trafficking pathway, suggesting that other cellular mechanisms also merit consideration. Demyelinating, or type 1, neuropathies are increasingly well understood and are often associated with genes expressed by Schwann cells encoding the structural proteins of myelin.
Axonal, or type 2, neuropathies are less well understood, although vharcot including the axonal cytoskeleton, axonal transport and mitochondrial function are emerging, based on disease-associated genes identified to date. Another emerging pathway in peripheral neuropathy is endosomal sorting and targeting to the lysosome Fig.
Furthermore, the functions of these proteins in endosomal sorting and lysosomal targeting are poorly understood.
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View large Download slide The endosome to lysosome pathway and Lrsam1 mutations in mice. A Schematic of the endosome to lysosome pathway. Proteins are endocytosed from the plasma membrane and either recycled back to the membrane or transited through the endosomal pathway. From the late endosome, multivesicular bodies are targeted to the lysosome for degradation. Key proteins that function in this pathway and also cause CMT disease when mutated are shown in bold. C Gene-trap alleles of the mouse Lrsam1.]
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