title: The PMP22 gene and its related diseases.
abstract: Peripheral myelin protein-22 (PMP22) is primarily expressed in the compact myelin of the peripheral nervous system. Levels of PMP22 have to be tightly regulated since alterations of PMP22 levels by mutations of the PMP22 gene are responsible for >50 % of all patients with inherited peripheral neuropathies, including Charcot-Marie-Tooth type-1A (CMT1A) with trisomy of PMP22, hereditary neuropathy with liability to pressure palsies (HNPP) with heterozygous deletion of PMP22, and CMT1E with point mutations of PMP22. While overexpression and point-mutations of the PMP22 gene may produce gain-of-function phenotypes, deletion of PMP22 results in a loss-of-function phenotype that reveals the normal physiological functions of the PMP22 protein. In this article, we will review the basic genetics, biochemistry and molecular structure of PMP22, followed by discussion of the current understanding of pathogenic mechanisms involving in the inherited neuropathies with mutations in PMP22 gene.
authors.affiliation: VA Tennessee Valley Healthcare System, 1310 24th Avenue South, Nashville, TN 37212, USA. Jun.li.2@vanderbilt.edu
authors.forename: Jun
authors.initials: J
authors.lastname: Li
authors.forename: Brett
authors.initials: B
authors.lastname: Parker
authors.forename: Colin
authors.initials: C
authors.lastname: Martyn
authors.forename: Chandramohan
authors.initials: C
authors.lastname: Natarajan
authors.forename: Jiasong
authors.initials: J
authors.lastname: Guo
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D009185:Myelin Proteins / Q000235:genetics* / Q000502:physiology; D010523:Peripheral Nervous System Diseases / Q000235:genetics* / Q000378:metabolism / Q000473:pathology
chemical_list: D009185:Myelin Proteins; C073687:PMP22 protein, human