Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset parkinsonism

Human Mutation

Volumn 34, Issue 9, 2013, Pages 1208-1215

  Quadri, Marialuisa ^a   Fang, Mingyan ^b   Picillo, Marina ^c   Olgiati, Simone ^a   Breedveld, Guido J ^a   Graafland, Josja ^a   Wu, Bin ^b   Xu, Fengping ^b   Erro, Roberto ^c   Amboni, Marianna ^d,e   Pappatà, Sabina ^f   Quarantelli, Mario ^f   Annesi, Grazia ^f   Quattrone, Aldo ^g   Chien, Hsin F ^h   Barbosa, Egberto R ^h   Oostra, Ben A ^a   Barone, Paolo ^e   Wang, Jun ^b,i,j,k   Bonifati, Vincenzo ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b BGI SHENZHEN   (China)

^c UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^d IDC Hermitage Capodimonte   (Italy)

^e UNIVERSITY OF SALERNO   (Italy)

^f CNR   (Italy)

^g UNIVERSITY MAGNA GRAECIA OF CATANZARO   (Italy)

^h UNIVERSITY OF SÃO PAULO   (Brazil)

ⁱ UNIVERSITY OF COPENHAGEN   (Denmark)

^j KING ABDULAZIZ UNIVERSITY   (Saudi Arabia)

^k Capital Region   (Denmark)

more..

Author keywords

Dementia; Dystonia; Gene; Mutation; Parkinsonism; PINK1; SYNJ1

Indexed keywords

GENOMIC DNA; LEVODOPA; SYNAPTOJANIN;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE INHERITANCE; BELGIUM; BRAIN ATROPHY; BRAZIL; CHROMOSOME 4; COGNITIVE DEFECT; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; DRUG RESPONSE; DYSTONIA; DYSTONIC DISORDER; EXOME; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; HOMOZYGOSITY; HUMAN; INVOLUNTARY MOVEMENT; ITALY; MAJOR CLINICAL STUDY; MENTAL DETERIORATION; NETHERLANDS; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; ONSET AGE; PARKINSONISM; PORTUGAL; PRIORITY JOURNAL; PYRAMIDAL SIGN; SPAIN; SYNAPSE VESICLE; SYNAPTOSOME; SYNJ1 GENE; UNIFIED PARKINSON DISEASE RATING SCALE;

EID: 84881612311     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22373     Document Type: Article

References (34)

1. Ben Gedalya T, Loeb V, Israeli E, Altschuler Y, Selkoe DJ, Sharon R. 2009. Alpha-synuclein and polyunsaturated fatty acids promote clathrin-mediated endocytosis and synaptic vesicle recycling. Traffic 10(2):218-234.
2. Bonifacino JS, Hurley JH. 2008. Retromer. Curr Opin Cell Biol 20(4):427-436.
3. Bonifati V. 2012. Autosomal recessive Parkinsonism. Parkinsonism Relat Disord 18 Suppl 1:S4-S6.
4. Bonifati V, Rizzu P, van Baren MJ, Schaap O, Breedveld GJ, Krieger E, Dekker MC, Squitieri F, Ibanez P, Joosse M, van Dongen JW, Vanacore N, et al. 2003. Mutations in the DJ-1 gene associated with autosomal recessive early-onset Parkinsonism. Science 299(5604):256-259.
5. Cremona O, Di Paolo G, Wenk MR, Luthi A, Kim WT, Takei K, Daniell L, Nemoto Y, Shears SB, Flavell RA, McCormick DA, De Camilli P. 1999. Essential role of phosphoinositide metabolism in synaptic vesicle recycling. Cell 99(2):179-188.
6. Di Fonzo A, Dekker MC, Montagna P, Baruzzi A, Yonova EH, Correia Guedes L, Szczerbinska A, Zhao T, Dubbel-Hulsman LO, Wouters CH, de Graaff E, Oyen WJ, et al. 2009. FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome. Neurology 72(3):240-245.
7. Di Paolo G, De Camilli P. 2006. Phosphoinositides in cell regulation and membrane dynamics. Nature 443(7112):651-657.
8. Edvardson S, Cinnamon Y, Ta-Shma A, Shaag A, Yim YI, Zenvirt S, Jalas C, Lesage S, Brice A, Taraboulos A, Kaestner KH, Greene LE, et al. 2012. A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile Parkinsonism. PLoS One 7(5):e36458.
9. Fahn S. 2003. Description of Parkinson's disease as a clinical syndrome. Ann N Y Acad Sci 991:1-14.
10. Hoffmann K, Lindner TH. 2005. easyLINKAGE-Plus-automated linkage analyses using large-scale SNP data. Bioinformatics 21(17):3565-3567.
11. Hughes AJ, Daniel SE, Kilford L, Lees AJ. 1992. Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases. J Neurol Neurosurg Psychiatry 55(3):181-184.
12. Kitada T, Asakawa S, Hattori N, Matsumine H, Yamamura Y, Minoshima S, Yokochi M, Mizuno Y, Shimizu N. 1998. Mutations in the parkin gene cause autosomal recessive juvenile Parkinsonism. Nature 392(6676):605-608.
13. Koroglu C, Baysal L, Cetinkaya M, Karasoy H, Tolun A. 2013. DNAJC6 is responsible for juvenile Parkinsonism with phenotypic variability. Parkinsonism Relat Disord 19(3):320-324.
14. Mani M, Lee SY, Lucast L, Cremona O, Di Paolo G, De Camilli P, Ryan TA. 2007. The dual phosphatase activity of synaptojanin1 is required for both efficient synaptic vesicle endocytosis and reavailability at nerve terminals. Neuron 56(6):1004-1018.
15. Matta S, Van Kolen K, da Cunha R, van den Bogaart G, Mandemakers W, Miskiewicz K, De Bock PJ, Morais VA, Vilain S, Haddad D, Delbroek L, Swerts J, et al. 2012. LRRK2 controls an EndoA phosphorylation cycle in synaptic endocytosis. Neuron 75(6):1008-1021.
16. McPherson PS, Garcia EP, Slepnev VI, David C, Zhang X, Grabs D, Sossin WS, Bauerfeind R, Nemoto Y, De Camilli P. 1996. A presynaptic inositol-5-phosphatase. Nature 379(6563):353-357.
17. Milosevic I, Giovedi S, Lou X, Raimondi A, Collesi C, Shen H, Paradise S, O'Toole E, Ferguson S, Cremona O, De Camilli P. 2011. Recruitment of endophilin to clathrin-coated pit necks is required for efficient vesicle uncoating after fission. Neuron 72(4):587-601.
18. Nalls MA. 2011. Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies. International Parkinson Disease Genomics Consortium. Lancet 377(9766):641-649.
19. Nemani VM, Lu W, Berge V, Nakamura K, Onoa B, Lee MK, Chaudhry FA, Nicoll RA, Edwards RH. 2010. Increased expression of alpha-synuclein reduces neurotransmitter release by inhibiting synaptic vesicle reclustering after endocytosis. Neuron 65(1):66-79.
20. Paisan-Ruiz C, Bhatia KP, Li A, Hernandez D, Davis M, Wood NW, Hardy J, Houlden H, Singleton A, Schneider SA. 2009. Characterization of PLA2G6 as a locus for dystonia-Parkinsonism. Ann Neurol 65(1):19-23.
21. Pankratz N, Wilk JB, Latourelle JC, DeStefano AL, Halter C, Pugh EW, Doheny KF, Gusella JF, Nichols WC, Foroud T, Myers RH; PSG-PROGENI and GenePD Investigators, Coordinators and Molecular Genetic Laboratories. 2009. Genomewide association study for susceptibility genes contributing to familial Parkinson disease. Hum Genet 124(6):593-605.
22. Perera RM, Zoncu R, Lucast L, De Camilli P, Toomre D. 2006. Two synaptojanin 1 isoforms are recruited to clathrin-coated pits at different stages. Proc Natl Acad Sci USA 103(51):19332-19337.
23. Popoff V, Mardones GA, Tenza D, Rojas R, Lamaze C, Bonifacino JS, Raposo G, Johannes L. 2007. The retromer complex and clathrin define an early endosomal retrograde exit site. J Cell Sci 120(Pt 12):2022-2031.
24. Ramirez A, Heimbach A, Grundemann J, Stiller B, Hampshire D, Cid LP, Goebel I, Mubaidin AF, Wriekat AL, Roeper J, Al-Din A, Hillmer AM, et al. 2006. Hereditary Parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase. Nat Genet 38(10):1184-1191.
25. Ramjaun AR, McPherson PS. 1996. Tissue-specific alternative splicing generates two synaptojanin isoforms with differential membrane binding properties. J Biol Chem 271(40):24856-24861.
26. Santoro L, Breedveld GJ, Manganelli F, Iodice R, Pisciotta C, Nolano M, Punzo F, Quarantelli M, Pappata S, Di Fonzo A, Oostra BA, Bonifati V. 2011. Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability. Neurogenetics 12(1):33-39.
27. Shojaee S, Sina F, Banihosseini SS, Kazemi MH, Kalhor R, Shahidi GA, Fakhrai-Rad H, Ronaghi M, Elahi E. 2008. Genome-wide linkage analysis of a Parkinsonian-pyramidal syndrome pedigree by 500 K SNP arrays. Am J Hum Genet 82(6):1375-1384.
28. Singleton AB, Farrer MJ, Bonifati V. 2013. The genetics of Parkinson's disease: progress and therapeutic implications. Mov Disord 28(1):14-23.
29. Trempe JF, Chen CX, Grenier K, Camacho EM, Kozlov G, McPherson PS, Gehring K, Fon EA. 2009. SH3 domains from a subset of BAR proteins define a Ubl-binding domain and implicate parkin in synaptic ubiquitination. Mol Cell 36(6):1034-1047.
30. Ungewickell E, Ungewickell H, Holstein SE, Lindner R, Prasad K, Barouch W, Martin B, Greene LE, Eisenberg E. 1995. Role of auxilin in uncoating clathrin-coated vesicles. Nature 378(6557):632-635.
31. Valente EM, Abou-Sleiman PM, Caputo V, Muqit MM, Harvey K, Gispert S, Ali Z, Del Turco D, Bentivoglio AR, Healy DG, Albanese A, Nussbaum R, et al. 2004. Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science 304(5674):1158-1160.
32. Vilarino-Guell C, Wider C, Ross OA, Dachsel JC, Kachergus JM, Lincoln SJ, Soto-Ortolaza AI, Cobb SA, Wilhoite GJ, Bacon JA, Behrouz B, Melrose HL, et al. 2011. VPS35 mutations in Parkinson disease. Am J Hum Genet 89(1):162-167.
33. Yim YI, Sun T, Wu LG, Raimondi A, De Camilli P, Eisenberg E, Greene LE. 2010. Endocytosis and clathrin-uncoating defects at synapses of auxilin knockout mice. Proc Natl Acad Sci USA 107(9):4412-4417.
34. Zimprich A, Benet-Pages A, Struhal W, Graf E, Eck SH, Offman MN, Haubenberger D, Spielberger S, Schulte EC, Lichtner P, Rossle SC, Klopp N, et al. 2011. A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease. Am J Hum Genet 89(1):168-75.