Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31.
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.
Züchner
Stephan
S
Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA. szuchner@chg.duhs.duke.edu
Wang
Gaofeng
G
Tran-Viet
Khanh-Nhat
KN
Nance
Martha A
MA
Gaskell
Perry C
PC
Vance
Jeffery M
JM
Ashley-Koch
Allison E
AE
Pericak-Vance
Margaret A
MA
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
D026901:Membrane Transport Proteins; D024101:Mitochondrial Proteins; C495318:REEP1 protein, human