title: Proteolipid protein is necessary in peripheral as well as central myelin.
abstract: Alternative products of the proteolipid protein gene (PLP), proteolipid protein (PLP) and DM20, are major components of compact myelin in the central nervous system, but quantitatively minor constituents of Schwann cells. A family with a null allele of PLP has a less severe CNS phenotype than those with other types of PLP mutations. Moreover, individuals with PLP null mutations have a demyelinating peripheral neuropathy, not seen with other PLP mutations of humans or animals. Direct analysis of normal peripheral nerve demonstrates that PLP is localized to compact myelin. This and the clinical and pathologic observations of the PLP null phenotype indicate that PLP/DM20 is necessary for proper myelin function both in the central and peripheral nervous systems.
authors.affiliation: Department of Neurology, Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, Michigan 48201, USA.
authors.forename: J Y
authors.initials: JY
authors.lastname: Garbern
authors.forename: F
authors.initials: F
authors.lastname: Cambi
authors.forename: X M
authors.initials: XM
authors.lastname: Tang
authors.forename: A A
authors.initials: AA
authors.lastname: Sima
authors.forename: J M
authors.initials: JM
authors.lastname: Vallat
authors.forename: E P
authors.initials: EP
authors.lastname: Bosch
authors.forename: R
authors.initials: R
authors.lastname: Lewis
authors.forename: M
authors.initials: M
authors.lastname: Shy
authors.forename: J
authors.initials: J
authors.lastname: Sohi
authors.forename: G
authors.initials: G
authors.lastname: Kraft
authors.forename: K L
authors.initials: KL
authors.lastname: Chen
authors.forename: I
authors.initials: I
authors.lastname: Joshi
authors.forename: D G
authors.initials: DG
authors.lastname: Leonard
authors.forename: W
authors.initials: W
authors.lastname: Johnson
authors.forename: W
authors.initials: W
authors.lastname: Raskind
authors.forename: S R
authors.initials: SR
authors.lastname: Dlouhy
authors.forename: V
authors.initials: V
authors.lastname: Pratt
authors.forename: M E
authors.initials: ME
authors.lastname: Hodes
authors.forename: T
authors.initials: T
authors.lastname: Bird
authors.forename: J
authors.initials: J
authors.lastname: Kamholz
mesh_terms: D000293:Adolescent; D000328:Adult; D002490:Central Nervous System / Q000378:metabolism*; D002540:Cerebral Cortex / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D003711:Demyelinating Diseases / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D009185:Myelin Proteins / Q000378:metabolism* / Q000502:physiology; D018991:Myelin Proteolipid Protein / Q000235:genetics* / Q000502:physiology; D010375:Pedigree; D017933:Peripheral Nervous System / Q000378:metabolism*
chemical_list: D009185:Myelin Proteins; D018991:Myelin Proteolipid Protein