Gene-wise association of variants in four lysosomal storage disorder genes in neuropathologically confirmed Lewy body disease

PLoS ONE

Volumn 10, Issue 5, 2015, Pages

  Clark, Lorraine N ^a,d   Chan, Robin ^a   Cheng, Rong ^b   Liu, Xinmin ^a   Park, Naeun ^b   Parmalee, Nancy ^a   Kisselev, Sergey ^a   Cortes, Etty ^a   Torres, Paola A ^c   Pastores, Gregory M ^c   Vonsattel, Jean P ^a   Alcalay, Roy ^a,b,d   Marder, Karen ^a,b,d   Honig, Lawrence L ^a,b,d   Fahn, Stanley ^d   Mayeux, Richard ^a,c,d,e   Shelanski, Michael ^a   Di Paolo, Gilbert ^a   Lee, Joseph H ^a,b,d,e  

^a NewYork Presbyterian Hospital   (United States)

^b Taub Institute for Research on Alzheimer's Disease and the Aging Brain and the Gertrude H Sergievsky Center   (United States)

^c NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d Och Spine at New York Presbyterian Hospitals   (United States)

^e Department of Pediatrics New York University School of Medicine ^*  (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CERAMIDE; GLUCOSYLCERAMIDASE; LIPID; SPHINGOLIPID;

AGED; ALZHEIMER DISEASE; ARTICLE; AUTOPSY; BIOCHEMICAL ANALYSIS; BRAIN TISSUE; CONTROLLED STUDY; DIFFUSE LEWY BODY DISEASE; ENZYME ACTIVITY; FEMALE; GBA GENE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC VARIABILITY; HETEROZYGOTE; HEXA GENE; HUMAN; HUMAN TISSUE; LIPIDOMICS; LYSOSOME STORAGE DISEASE GENE; MAJOR CLINICAL STUDY; MALE; MCOLN1 GENE; PATHOGENESIS; SMPD1 GENE; BLOOD; BRAIN; CAUCASIAN; COMPLICATION; DEMOGRAPHY; DNA SEQUENCE; ENZYMOLOGY; ETHNIC GROUP; GENETIC PREDISPOSITION; GENETIC VARIATION; GENETICS; LYSOSOME STORAGE DISEASE; MUTATION; NERVOUS SYSTEM; PATHOLOGY; REPRODUCIBILITY; VERY ELDERLY;

AGED; AGED, 80 AND OVER; AUTOPSY; BRAIN; DEMOGRAPHY; ETHNIC GROUPS; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; GLUCOSYLCERAMIDASE; HETEROZYGOTE; HUMANS; LEWY BODY DISEASE; LIPIDS; LYSOSOMAL STORAGE DISEASES; MALE; MUTATION; NERVOUS SYSTEM; REPRODUCIBILITY OF RESULTS; SEQUENCE ANALYSIS, DNA;

EID: 84928798778     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0125204     Document Type: Article

References (37)

1. McKeith IG, Perry EK, Perry RH. Report of the second dementia with Lewy body international workshop: diagnosis and treatment. Consortium on Dementia with Lewy Bodies. Neurology. 1999; 53: 902-905. PMID: 10496243
2. McKeith IG. Clinical Lewy body syndromes. Ann N Y Acad Sci. 2000; 920: 1-8. PMID: 11193136
3. McKeith IG. Spectrum of Parkinson's disease, Parkinson's dementia, and Lewy body dementia. Neurol Clin. 2000; 18: 865-902. PMID: 11072265
4. Tayebi N, Walker J, Stubblefield B, Orvisky E, LaMarca ME, Wong K, et al. Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism? Mol Genet Metab. 2003; 79: 104-109. PMID: 12809640
5. Suzuki K, Iseki E, Togo T, Yamaguchi A, Katsuse O, Katsuyama K, et al. Neuronal and glial accumulation of alpha- and beta-synucleins in human lipidoses. Acta Neuropathol. 2007; 114: 481-489. PMID: 17653558
6. Choi JH, Stubblefield B, Cookson MR, Goldin E, Velayati A, Tayebi N, et al. Aggregation of α-synuclein in brain samples from subjects with glucocerebrosidase mutations. Mol Genet Metab. 2011; 104: 185-188. doi: 10.1016/j.ymgme.2011.06.008 PMID: 21742527
7. Winder-Rhodes SE, Garcia-Reitbock P, Ban M, Evans JR, Jacques TS, Kemppinen A, et al. Genetic and pathological links between Parkinson's disease and the lysosomal disorder Sanfilippo syndrome. Mov Disord. 2012; 27: 312-315. doi: 10.1002/mds.24029 PMID: 22102531
8. Cox TM, Cachon-Gonzalez MB. The cellular pathology of lysosomal diseases. J Pathol. 2012; 226: 241-254. doi: 10.1002/path.3021 PMID: 21990005
9. Clark LN, Ross BM, Wang Y, Mejia-Santana H, Harris J, Louis ED, et al. Mutations in the glucocerebrosidase gene are associated with early-onset Parkinson disease. Neurology. 2007; 69: 1270-1277. PMID: 17875915
10. Sidransky E, Nalls MA, Aasly JO, Aharon-Peretz J, Annesi G, Barbosa ER, et al. Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. N Engl J Med. 2009; 361: 1651-1661. doi: 10.1056/NEJMoa0901281 PMID: 19846850
11. Clark LN, Kartsaklis LA, Wolf Gilbert R, Dorado B, Ross BM, Kisselev S, et al. Association of glucocerebrosidase mutations with dementia with lewy bodies. Arch Neurol.2009; 66: 578-583. doi: 10.1001/archneurol.2009.54 PMID: 19433657
12. Gan-Or Z, Ozelius LJ, Bar-Shira A, Saunders-Pullman R, Mirelman A, Kornreich R, et al. The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease. Neurology. 2013; 80: 1606-1610. doi: 10.1212/WNL.0b013e31828f180e PMID: 23535491
13. McKeith IG, Dickson DW, Lowe J, Emre M, O'Brien JT, Feldman H, et al. Diagnosis and management of dementia with Lewy bodies: third report of the DLB Consortium. Neurology. 2005; 65: 1863-1872. PMID: 16237129
14. Mirra SS, Heyman A, McKeel D, Sumi SM, Crain BJ, Brownlee LM, et al. The Consortium to Establish a Registry for Alzheimer's Disease (CERAD). Part II. Standardization of the neuropathologic assessment of Alzheimer's disease. Neurology. 1991; 41: 479-486. PMID: 2011243
15. NACC Neuropathology (NP) Diagnosis Coding Guidebook. Seattle: University of Washington: National Alzheimer's Coordinating Center. 2005-2008.
16. Yang J, Lee SH, Goddard ME, Visscher PM. GCTA: a tool for genome-wide complex trait analysis. Am J Hum Genet. 2011; 88: 76-82. doi: 10.1016/j.ajhg.2010.11.011 PMID: 21167468
17. Chan RB, Oliveira TG, Cortes EP, Honig LS, Duff KE, Small SA, et al. Comparative lipidomic analysis of mouse and human brain with Alzheimer disease. J Biol Chem. 2012; 287: 2678-2688. doi: 10.1074/jbc.M111.274142 PMID: 22134919
18. Chan R, Uchil PD, Jin J, Shui G, Ott DE, Mothes W, et al. Retroviruses human immunodeficiency virus and murine leukemia virus are enriched in phosphoinositides. J Virol. 2008; 82: 11228-11238. doi: 10.1128/JVI.00981-08 PMID: 18799574
19. Wu MC, Lee S, Cai T, Li Y, Boehnke M, Lin X. Rare-variant association testing for sequencing data with the sequence kernel association test. Am J Hum Genet. 2011; 89: 82-93. doi: 10.1016/j.ajhg.2011.05.029 PMID: 21737059
20. Hruska KS, LaMarca ME, Scott CR, Sidransky E. Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA). Hum Mutat. 2008; 29: 567-583. doi: 10.1002/humu.20676 PMID: 18338393
21. Irun P, Mallen M, Dominguez C, Rodriguez-Sureda V, Alvarez-Sala LA, Arslan N, et al. Identification of seven novel SMPD1 mutations causing Niemann-Pick disease types A and B. Clin Genet. 2013; 84: 356-361. doi: 10.1111/cge.12076 PMID: 23252888
22. Simonaro CM, Desnick RJ, McGovern MM, Wasserstein MP, Schuchman EH. The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations. Am J Hum Genet. 2002; 71: 1413-1419. PMID: 12369017
23. Triggs-Raine B, Richard M, Wasel N, Prence EM, Natowicz MR. Mutational analyses of Tay-Sachs disease: studies on Tay-Sachs carriers of French Canadian background living in New England. Am J Hum Genet. 1995; 56: 870-879. PMID: 7717398
24. Nalls MA, Plagnol V, Hernandez DG, Sharma M, Sheerin U-M, Saad M, et al. Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies. Lancet. 2011; 377: 641-649. doi: 10.1016/S0140-6736(10)62345-8 PMID: 21292315
25. Do CB, Tung JY, Dorfman E, Kiefer AK, Drabant EM, Francke U, et al. Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease. PLoS Genet. 2011; 7(6): e1002141. doi: 10.1371/journal.pgen.1002141 PMID: 21738487
26. Di Fonzo A, Chien HF, Socal M, Giraudo S, Tassorelli C, Iliceto G, et al. ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease. Neurology. 2007; 68: 1557-1562. PMID: 17485642
27. Vilarino-Guell C, Wider C, Ross OA, Dachsel JC, Kachergus JM, Lincoln SJ, et al. VPS35 mutations in Parkinson disease. Am J Hum Genet. 2011; 89: 162-167. doi: 10.1016/j.ajhg.2011.06.001 PMID: 21763482
28. Tsuang D, Leverenz JB, Lopez OL, Hamilton RL, Bennett DA, Schneider JA, et al. GBA mutations increase risk for Lewy body disease with and without Alzheimer disease pathology. Neurology. 2012; 79: 1944-1950. doi: 10.1212/WNL.0b013e3182735e9a PMID: 23035075
29. Gegg ME, Burke D, Heales SJR, Cooper JM, Hardy J, Wood NW, et al. Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains. Ann Neurol. 2012; 72: 455-463. doi: 10.1002/ana.23614 PMID: 23034917
30. Murphy KE, Gysbers AM, Abbott SK, Tayebi N, Kim WS, Sidransky E, et al. Reduced glucocerebrosidase is associated with increased α-synuclein in sporadic Parkinson's disease. Brain. 2014; 137: 834-848. doi: 10.1093/brain/awt367 PMID: 24477431
31. Boot RG, Verhoek M, Donker-Koopman W, Strijland A, van Marle J, Overkleeft HS, et al. Identification of the non-lysosomal glucosylceramidase as beta-glucosidase 2. J Biol Chem. 2007; 282: 1305-1312. PMID: 17105727
32. Yildiz Y, Matern H, Thompson B, Allegood JC, Warren RL, Ramirez DMO, et al. Mutation of beta-glucosidase 2 causes glycolipid storage disease and impaired male fertility. J Clin Invest. 2006; 116: 2985-2994. PMID: 17080196
33. Kobayashi T, Beuchat MH, Lindsay M, Frias S, Palmiter RD, Sakuraba H, et al. Late endosomal membranes rich in lysobisphosphatidic acid regulate cholesterol transport. Nat Cell Biol. 1999; 1: 113-118. PMID: 10559883
34. Bateman RJ, Xiong C, Benzinger TLS, Fagan AM, Goate A, Fox NC, et al. Clinical and biomarker changes in dominantly inherited Alzheimer's disease. N Engl J Med. 2012; 367: 795-804. doi: 10.1056/NEJMoa1202753 PMID: 22784036
35. Braak H, Del Tredici K, Rub U, de Vos RAI, Jansen Steur ENH, Braak E. Staging of brain pathology related to sporadic Parkinson's disease. Neurobiol Aging. 2003; 24: 197-211. PMID: 12498954
36. Hawkes CH. The prodromal phase of sporadic Parkinson's disease: does it exist and if so how long is it? Mov Disord. 2008; 23: 1799-1807. doi: 10.1002/mds.22242 PMID: 18759359
37. Koller WC. When does Parkinson's disease begin? Neurology. 1992; 42: 27-31; discussion 41-28. PMID: 1350072