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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.

SUBMITTER: Zuchner S

PROVIDER: S-EPMC1559498 | biostudies-literature | 2006 Aug

REPOSITORIES: biostudies-literature

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Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31.

Züchner Stephan S 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

American journal of human genetics 20060526 2

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 mitochondri ...[more]

PMID: 16826527

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Screening for REEP1 Mutations in 31 Chinese Hereditary Spastic Paraplegia Families.

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REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.

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Hereditary spastic paraplegia due to a novel mutation of the REEP1 gene: Case report and literature review.

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| S-EPMC5279100 | biostudies-literature

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