Comprehensive analysis of the genes responsible for neuroacanthocytosis in mood disorder and schizophrenia

Neuroscience Research

Volumn 69, Issue 3, 2011, Pages 196-202

  Shimo, Hirochika ^a   Nakamura, Masayuki ^a   Tomiyasu, Akiyuki ^a   Ichiba, Mio ^a   Ueno, Shu Ichi ^b   Sano, Akira ^a  

^a KAGOSHIMA UNIVERSITY   (Japan)

^b EHIME UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

Chorea acanthocytosis; Copy number variations; McLeod syndrome; Rare variants; Resequencing

Indexed keywords

ARTICLE; CONTROLLED STUDY; DNA POLYMORPHISM; EXON; GENE DELETION; GENE MUTATION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; INTRON; MAJOR CLINICAL STUDY; MOOD DISORDER; NEUROACANTHOCYTOSIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SCHIZOPHRENIA;

AMINO ACID TRANSPORT SYSTEMS, NEUTRAL; CYSTEINE; DNA COPY NUMBER VARIATIONS; DNA MUTATIONAL ANALYSIS; HUMANS; JAPAN; MOOD DISORDERS; NEUROACANTHOCYTOSIS; SCHIZOPHRENIA; TYROSINE; VESICULAR TRANSPORT PROTEINS;

EID: 79451469598     PISSN: 01680102     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.neures.2010.12.001     Document Type: Article

References (25)

1. Aharon-Peretz J., Rosenbaum H., Gershoni-Baruch R. Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews. N. Engl. J. Med. 2004, 351:1972-1977.
2. Bottema C.D., Ketterling R.P., Ii S., Yoon H.S., Phillips J.A., Sommer S.S. Missense mutations and evolutionary conservation of amino acids: evidence that many of the amino acids in factor IX function as " spacer" elements. Am. J. Hum. Genet. 1991, 49:820-838.
3. Clark L.N., Kartsaklis L.A., Wolf Gilbert R., Dorado B., Ross B.M., Kisselev S., Verbitsky M., Mejia-Santana H., Cote L.J., Andrews H., Vonsattel J.P., Fahn S., Mayeux R., Honig L.S., Marder K. Association of glucocerebrosidase mutations with dementia with lewy bodies. Arch. Neurol. 2009, 66:578-583.
4. Danek A., Jung H.H., Melone M.A., Rampoldi L., Broccoli V., Walker R.H. Neuroacanthocytosis: new developments in a neglected group of dementing disorders. J. Neurol. Sci. 2005, 229-230:171-186.
5. Danek A., Uttner I., Vogl T., Tatsch K., Witt T.N. Cerebral involvement in McLeod syndrome. Neurology 1994, 44:117-120.
6. Hardie R.J., Pullon H.W., Harding A.E., Owen J.S., Pires M., Daniels G.L., Imai Y., Misra V.P., King R.H., Jacobs J.M., et al. Neuroacanthocytosis. A clinical, haematological and pathological study of 19 cases. Brain 1991, 114(Pt 1A):13-49.
7. Ho M., Chelly J., Carter N., Danek A., Crocker P., Monaco A.P. Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein. Cell 1994, 77:869-880.
8. Ichiba M., Nakamura M., Kusumoto A., Mizuno E., Kurano Y., Matsuda M., Kato M., Agemura A., Tomemori Y., Muroya S., Nakabeppu Y., Sano A. Clinical and molecular genetic assessment of a chorea-acanthocytosis pedigree. J. Neurol. Sci. 2007, 263:124-132.
9. Jung H.H., Haker H. Schizophrenia as a manifestation of X-linked Mcleod-Neuroacanthocytosis syndrome. J. Clin. Psychiatry 2004, 65:722-723.
10. Kawakami T., Takiyama Y., Sakoe K., Ogawa T., Yoshioka T., Nishizawa M., Reid M.E., Kobayashi O., Nonaka I., Nakano I. A case of McLeod syndrome with unusually severe myopathy. J. Neurol. Sci. 1999, 166:36-39.
11. Kumar R.A., McGhee K.A., Leach S., Bonaguro R., Maclean A., Aguirre-Hernandez R., Abrahams B.S., Coccaro E.F., Hodgins S., Turecki G., Condon A., Muir W.J., Brooks-Wilson A.R., Blackwood D.H., Simpson E.M. Initial association of NR2E1 with bipolar disorder and identification of candidate mutations in bipolar disorder, schizophrenia, and aggression through resequencing. Am. J. Med. Genet. B. Neuropsychiatr. Genet. 2008, 147B:880-889.
12. Kurano Y., Nakamura M., Ichiba M., Matsuda M., Mizuno E., Kato M., Agemura A., Izumo S., Sano A. In vivo distribution and localization of chorein. Biochem. Biophys. Res. Commun. 2007, 353:431-435.
13. Livak K.J., Schmittgen T.D. Analysis of relative gene expression data using real-time quantitative PCR and the 22DDCT method. Methods 2001, 25:402-408.
14. Malandrini A., Fabrizi G.M., Truschi F., Di Pietro G., Moschini F., Bartalucci P., Berti G., Salvadori C., Bucalossi A., Guazzi G. Atypical McLeod syndrome manifested as X-linked chorea-acanthocytosis, neuromyopathy and dilated cardiomyopathy: report of a family. J. Neurol. Sci. 1994, 124:89-94.
15. McCarthy M.I., Hirschhorn J.N. Genome-wide association studies: potential next steps on a genetic journey. Hum. Mol. Genet. 2008, 17:R156-R165.
16. Mitsui J., Mizuta I., Toyoda A., Ashida R., Takahashi Y., Goto J., Fukuda Y., Date H., Iwata A., Yamamoto M., Hattori N., Murata M., Toda T., Tsuji S. Mutations for Gaucher disease confer high susceptibility to Parkinson disease. Arch. Neurol. 2009, 66:571-576.
17. Sebat J., Lakshmi B., Malhotra D., Troge J., Lese-Martin C., Walsh T., Yamrom B., Yoon S., Krasnitz A., Kendall J., Leotta A., Pai D., Zhang R., Lee Y.H., Hicks J., Spence S.J., Lee A.T., Puura K., Lehtimaki T., Ledbetter D., Gregersen P.K., Bregman J., Sutcliffe J.S., Jobanputra V., Chung W., Warburton D., King M.C., Skuse D., Geschwind D.H., Gilliam T.C., Ye K., Wigler M. Strong association of de novo copy number mutations with autism. Science 2007, 316:445-449.
18. Song W., Li W., Feng J., Heston L.L., Scaringe W.A., Sommer S.S. Identification of high risk DISC1 structural variants with a 2% attributable risk for schizophrenia. Biochem. Biophys. Res. Commun. 2008, 367:700-706.
19. Stefansson H., Rujescu D., Cichon S., Pietilainen O.P., Ingason A., Steinberg S., Fossdal R., Sigurdsson E., Sigmundsson T., Buizer-Voskamp J.E., Hansen T., Jakobsen K.D., Muglia P., Francks C., Matthews P.M., Gylfason A., Halldorsson B.V., Gudbjartsson D., Thorgeirsson T.E., Sigurdsson A., Jonasdottir A., Bjornsson A., Mattiasdottir S., Blondal T., Haraldsson M., Magnusdottir B.B., Giegling I., Moller H.J., Hartmann A., Shianna K.V., Ge D., Need A.C., Crombie C., Fraser G., Walker N., Lonnqvist J., Suvisaari J., Tuulio-Henriksson A., Paunio T., Toulopoulou T., Bramon E., Di Forti M., Murray R., Ruggeri M., Vassos E., Tosato S., Walshe M., Li T., Vasilescu C., Muhleisen T.W., Wang A.G., Ullum H., Djurovic S., Melle I., Olesen J., Kiemeney L.A., Franke B., Sabatti C., Freimer N.B., Gulcher J.R., Thorsteinsdottir U., Kong A., Andreassen O.A., Ophoff R.A., Georgi A., Rietschel M., Werge T., Petursson H., Goldstein D.B., Nothen M.M., Peltonen L., Collier D.A., St Clair D., Stefansson K. Large recurrent microdeletions associated with schizophrenia. Nature 2008, 455:232-236.
20. Swash M., Schwartz M.S., Carter N.D., Heath R., Leak M., Rogers K.L. Benign X-linked myopathy with acanthocytes (McLeod syndrome). Its relationship to X-linked muscular dystrophy. Brain 1983, 106(Pt 3):717-733.
21. Ueno S., Maruki Y., Nakamura M., Tomemori Y., Kamae K., Tanabe H., Yamashita Y., Matsuda S., Kaneko S., Sano A. The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis. Nat. Genet. 2001, 28:121-122.
22. Weiss L.A., Shen Y., Korn J.M., Arking D.E., Miller D.T., Fossdal R., Saemundsen E., Stefansson H., Ferreira M.A., Green T., Platt O.S., Ruderfer D.M., Walsh C.A., Altshuler D., Chakravarti A., Tanzi R.E., Stefansson K., Santangelo S.L., Gusella J.F., Sklar P., Wu B.L., Daly M.J. Association between microdeletion and microduplication at 16p11.2 and autism. N. Engl. J. Med. 2008, 358:667-675.
23. Witt T.N., Danek A., Reiter M., Heim M.U., Dirschinger J., Olsen E.G. McLeod syndrome: a distinct form of neuroacanthocytosis. Report of two cases and literature review with emphasis on neuromuscular manifestations. J. Neurol. 1992, 239:302-306.
24. Xu B., Roos J.L., Levy S., van Rensburg E.J., Gogos J.A., Karayiorgou M. Strong association of de novo copy number mutations with sporadic schizophrenia. Nat. Genet. 2008, 40:880-885.
25. Zhou W., Freed C.R. Tyrosine-to-cysteine modification of human alpha-synuclein enhances protein aggregation and cellular toxicity. J. Biol. Chem. 2004, 279:10128-10135.