title: Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31.
abstract: Hereditary spastic paraplegia (HSP) comprises a group of clinically and genetically heterogeneous diseases that affect the upper motor neurons and their axonal projections. For the novel SPG31 locus on chromosome 2p12, we identified six different mutations in the receptor expression-enhancing protein 1 gene (REEP1). REEP1 mutations occurred in 6.5% of the patients with HSP in our sample, making it the third-most common HSP gene. We show that REEP1 is widely expressed and localizes to mitochondria, which underlines the importance of mitochondrial function in neurodegenerative disease.
authors.affiliation: Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA. szuchner@chg.duhs.duke.edu
authors.forename: Stephan
authors.initials: S
authors.lastname: Züchner
authors.forename: Gaofeng
authors.initials: G
authors.lastname: Wang
authors.forename: Khanh-Nhat
authors.initials: KN
authors.lastname: Tran-Viet
authors.forename: Martha A
authors.initials: MA
authors.lastname: Nance
authors.forename: Perry C
authors.initials: PC
authors.lastname: Gaskell
authors.forename: Jeffery M
authors.initials: JM
authors.lastname: Vance
authors.forename: Allison E
authors.initials: AE
authors.lastname: Ashley-Koch
authors.forename: Margaret A
authors.initials: MA
authors.lastname: Pericak-Vance
mesh_terms: D000818:Animals; D000882:Haplorhini; D006801:Humans; D026901:Membrane Transport Proteins / Q000235:genetics* / Q000378:metabolism; D024101:Mitochondrial Proteins / Q000235:genetics* / Q000378:metabolism; D008969:Molecular Sequence Data; D009154:Mutation; D051381:Rats; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics* / Q000378:metabolism
chemical_list: D026901:Membrane Transport Proteins; D024101:Mitochondrial Proteins; C495318:REEP1 protein, human