WebFeb 1, 1999 · These studies revealed a novel mutational mechanism of a large DNA duplication as a cause for a common autosomal dominant demyelinating neuropathy. A … WebInoue et al. (1996) suggested that since the homologous myelin protein gene PMP22 is duplicated in the majority of patients with CMT1A, PLP gene overdosage may be an important genetic abnormality in PMD and affect myelin formation. Duplication of the PLP1 gene is responsible for PMD in most patients, whereas deletion of PLP1 is infrequent.
Downregulation of the human peripheral myelin protein 22 gene …
WebNov 4, 2009 · Matsunami N, Smith B, Ballard L et al: Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth … WebAug 27, 2024 · The majority of hereditary neuropathies are caused by duplication of the peripheral myelin protein 22 (PMP22) gene. Therefore, mechanisms to suppress the expression of the PMP22 gene... clickhouse roadmap
PMP22 gene: MedlinePlus Genetics
WebAug 19, 2014 · In the majority of CMT1A patients duplication of the peripheral myelin protein 22 (PMP22) gene results in overproduction of the PMP22 RNA and protein in myelin forming Schwann cells. CMT1A results from a duplication of the gene on chromosome 17 that carries the instructions for producing the peripheral myelin protein-22 (PMP22). The PMP22 protein is a critical component of the myelin sheath. Overexpression of this gene causes the abnormal structure and function of the myelin sheath. … See more Charcot-Marie-Tooth disease (CMT) is one of a group of disorders that cause damage to the peripheral nerves—the nerves that transmit information and signals from the brain and spinal cord to and from the rest of … See more Diagnosing CMT Diagnosis begins with a detailed medical history, family history, and neurological examination. A physician will look for evidence … See more CMT is caused by mutations in genes that support or produce proteins involved in the structure and function of either the peripheral nerve axon or the myelin sheath. A nerve cell communicates information to distant … See more Ongoing research on CMT includes efforts to identify more of the mutant genes and proteins that cause the various disease subtypes, discover the mechanisms of nerve degeneration … See more WebThe 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 … clickhouse roll up