The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis

Department of Neuropsychiatry, Hirosaki University, Khirosaki, Aomori, Japan
Nature Genetics (Impact Factor: 29.65). 07/2001; 28(2):121-2. DOI: 10.1038/88825
Source: PubMed

ABSTRACT Chorea-acanthocytosis is a neurodegenerative disorder with peripheral red cell acanthocytosis. Linkage of chorea-acanthocytosis to chromosome 9q21 has been found. We refined the locus region and identified a previously unknown, full-length cDNA encoding a presumably structural protein, which we called chorein. We found a deletion in the coding region of the cDNA leading to a frame shift resulting in the production of a truncated protein in both alleles of patients and in single alleles of obligate carriers.

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    • "The VPS13A gene was amplified by polymerase chain reaction (PCR) to cover all coding sequences and exon-intron junctions. The primers used were essentially the same as those reported previously [1] [2]. This study was approved by the Ethical Committee of Kinki University. "
    Parkinsonism & Related Disorders 06/2013; 19(10). DOI:10.1016/j.parkreldis.2013.05.012 · 4.13 Impact Factor
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    • "Detection of bands of the expected size for the full-length transcripts by Northern analysis in different tissues indicated a broad expression pattern of the four genes. This fact was already known for VPS13A [1] [2]. However, our results differ from those previously reported for VPS13B [7], which suggested expression of the full-length mRNA just in prostate, testis, ovary, and colon, while two small transcripts (about 2 and 5 kb) were present in all analyzed tissues, with very low expression in brain. "
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    • "With membranes from Vps13p null strains, the TGN to PVC trafficking was blocked but could be rescued by addition of wildtype Vps13p (Fuller and De, 2010). A summary diagram of the proposed VPS13A trafficking pathways and functions is shown in Fig. 3. Large orthologous proteins were not only identified in the yeast Saccharomyces cerevisiae and in Schizosaccharomyces pombe (Soi1p/ Vps13p), but also in Caenorhabditis elegans, Drosophila melanogaster, Arabidopsis thaliana, and Dictyostelium discoideum (TipC) (Rampoldi et al., 2001; Ueno et al., 2001). In Tetrahymena thermophila, TtVPS13A was identified as a phagosomal protein (Jacobs et al., 2006). "
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    ABSTRACT: The terms "neuroacanthocytosis" (NA) and "neurodegeneration with brain iron accumulation" (NBIA) both refer to groups of genetically heterogeneous disorders, classified together due to similarities of their phenotypic or pathological findings. Even collectively, the disorders that comprise these sets are exceedingly rare and challenging to study. The NBIA disorders are defined by their appearance on brain magnetic resonance imaging, with iron deposition in the basal ganglia. Clinical features vary, but most include a movement disorder. New causative genes are being rapidly identified; however, the mechanisms by which mutations cause iron accumulation and neurodegeneration are not well understood. NA syndromes are also characterized by a progressive movement disorder, accompanied by cognitive and psychiatric features, resulting from mutations in a number of genes whose roles are also basically unknown. An overlapping feature of the two groups, NBIA and NA, is the occurrence of acanthocytes, spiky red cells with a poorly-understood membrane dysfunction. In this review we summarise recent developments in this field, specifically insights into cellular mechanisms and from animal models. Cell membrane research may shed light upon the significance of the erythrocyte abnormality, and upon possible connections between the two sets of disorders. Shared pathophysiologic mechanisms may lead to progress in the understanding of other types of neurodegeneration.
    Neurobiology of Disease 03/2012; 46(3):607-24. DOI:10.1016/j.nbd.2012.03.006 · 5.20 Impact Factor
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