Absence of BiP Co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegeneration

American Journal of Human Genetics

Volumn 95, Issue 6, 2014, Pages 689-697

  Synofzik, Matthis ^a,b   Haack, Tobias B ^c,d   Kopajtich, Robert ^c,d   Gorza, Matteo ^c,d   Rapaport, Doron ^e   Greiner, Markus ^f   Schönfeld, Caroline ^a,b,e   Freiberg, Clemens ^g   Schorr, Stefan ^f   Holl, Reinhard W ^h   Gonzalez, Michael A ⁱ   Fritsche, Andreas ^e   Fallier Becker, Petra ^e   Zimmermann, Richard ^f   Strom, Tim M ^c,d   Meitinger, Thomas ^c,d   Züchner, Stephan ⁱ   Schüle, Rebecca ^a,b,i   Schöls, Ludger ^a,b   Prokisch, Holger ^c,d  

^a UNIVERSITY OF TÜBINGEN   (Germany)

^b GERMAN CENTER FOR NEURODEGENERATIVE DISEASES DZNE   (Germany)

^c TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^d INSTITUTE OF EPIDEMIOLOGY   (Germany)

^e UNIVERSITY OF TÜBINGEN   (Germany)

^f SAARLAND UNIVERSITY   (Germany)

^g UNIVERSITY MEDICAL CENTER GÖTTINGEN   (Germany)

^h UNIVERSITY OF ULM   (Germany)

ⁱ UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

C PEPTIDE; GLUCAGON; GLUCOSE REGULATED PROTEIN 78; HEMOGLOBIN A1C; INSULIN; PROTEIN DNAJ; DNAJC3 PROTEIN, HUMAN; HEAT SHOCK PROTEIN; HEAT SHOCK PROTEIN 40; MOLECULAR CHAPERONE GRP78;

ADOLESCENT; ADULT; ALLELE; ARTICLE; ATAXIA; BODY MASS; BODY WEIGHT; BRAIN ATROPHY; CELL STRUCTURE; CHILD; COGNITIVE DEFECT; DNAJC3 GENE; ELECTRON MICROSCOPY; ENDOPLASMIC RETICULUM STRESS; EXOME; FEMALE; FIBROBLAST; GENE; GENE DELETION; GENE LOSS; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; HUMAN CELL; IMMUNOBLOTTING; INSULIN DEPENDENT DIABETES MELLITUS; INSULIN RELEASE; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; MALE; MINI MENTAL STATE EXAMINATION; MULTISYSTEMIC NEURODEGENERATION; NERVE CELL LESION; NERVE DEGENERATION; NUCLEOTIDE SEQUENCE; PERCEPTION DEAFNESS; PERIPHERAL NEUROPATHY; PHENOTYPE; PYRAMIDAL SIGN; SHORT STATURE; SHWACHMAN SYNDROME; UNFOLDED PROTEIN RESPONSE; UPPER MOTOR NEURON DAMAGE; CHEMICAL STRUCTURE; DNA SEQUENCE; GENE EXPRESSION REGULATION; GENETICS; HOMOZYGOTE; METABOLISM; MUTATION; PEDIGREE; RADIOGRAPHY; SHY DRAGER SYNDROME; YOUNG ADULT;

MUS;

ADOLESCENT; ADULT; ATAXIA; DIABETES MELLITUS, TYPE 1; EXOME; FEMALE; FIBROBLASTS; GENE EXPRESSION REGULATION; HEAT-SHOCK PROTEINS; HOMOZYGOTE; HSP40 HEAT-SHOCK PROTEINS; HUMANS; MALE; MODELS, MOLECULAR; MULTIPLE SYSTEM ATROPHY; MUTATION; PEDIGREE; PHENOTYPE; SEQUENCE ANALYSIS, DNA; YOUNG ADULT;

EID: 84919701047     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2014.10.013     Document Type: Article

References (22)

1. A.K. Steck, and W.E. Winter Review on monogenic diabetes Curr. Opin. Endocrinol. Diabetes Obes. 18 2011 252 258
2. K. Petrova, S. Oyadomari, L.M. Hendershot, and D. Ron Regulated association of misfolded endoplasmic reticulum lumenal proteins with P58/DNAJc3 EMBO J. 27 2008 2862 2872
3. S.G. Fonseca, S. Ishigaki, C.M. Oslowski, S. Lu, K.L. Lipson, R. Ghosh, E. Hayashi, H. Ishihara, Y. Oka, M.A. Permutt, and F. Urano Wolfram syndrome 1 gene negatively regulates ER stress signaling in rodent and human cells J. Clin. Invest. 120 2010 744 755
4. S.G. Fonseca, F. Urano, G.C. Weir, J. Gromada, and M. Burcin Wolfram syndrome 1 and adenylyl cyclase 8 interact at the plasma membrane to regulate insulin production and secretion Nat. Cell Biol. 14 2012 1105 1112
5. W. Yan, C.L. Frank, M.J. Korth, B.L. Sopher, I. Novoa, D. Ron, and M.G. Katze Control of PERK eIF2alpha kinase activity by the endoplasmic reticulum stress-induced molecular chaperone P58IPK Proc. Natl. Acad. Sci. USA 99 2002 15920 15925
6. W.C. Ladiges, S.E. Knoblaugh, J.F. Morton, M.J. Korth, B.L. Sopher, C.R. Baskin, A. MacAuley, A.G. Goodman, R.C. LeBoeuf, and M.G. Katze Pancreatic beta-cell failure and diabetes in mice with a deletion mutation of the endoplasmic reticulum molecular chaperone gene P58IPK Diabetes 54 2005 1074 1081
7. M.A. Gonzalez, R.F. Lebrigio, D. Van Booven, R.H. Ulloa, E. Powell, F. Speziani, M. Tekin, R. Schüle, and S. Züchner GEnomes Management Application (GEM.app): a new software tool for large-scale collaborative genome analysis Hum. Mutat. 34 2013 842 846
8. S. Petrovski, Q. Wang, E.L. Heinzen, A.S. Allen, and D.B. Goldstein Genic intolerance to functional variation and the interpretation of personal genomes PLoS Genet. 9 2013 e1003709
9. M.J. Gething Role and regulation of the ER chaperone BiP Semin. Cell Dev. Biol. 10 1999 465 472
10. M.J. Korth, C.N. Lyons, M. Wambach, and M.G. Katze Cloning, expression, and cellular localization of the oncogenic 58-kDa inhibitor of the RNA-activated human and mouse protein kinase Gene 170 1996 181 188
11. T.B. Haack, M. Gorza, K. Danhauser, J.A. Mayr, B. Haberberger, T. Wieland, L. Kremer, V. Strecker, E. Graf, and Y. Memari Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening Mol. Genet. Metab. 111 2014 342 352
12. C.E. Badr, J.W. Hewett, X.O. Breakefield, and B.A. Tannous A highly sensitive assay for monitoring the secretory pathway and ER stress PLoS ONE 2 2007 e571
13. N. Schäuble, S. Lang, M. Jung, S. Cappel, S. Schorr, O. Ulucan, J. Linxweiler, J. Dudek, R. Blum, and V. Helms BiP-mediated closing of the Sec61 channel limits Ca2+ leakage from the ER EMBO J. 31 2012 3282 3296
14. R. Murphy, S. Ellard, and A.T. Hattersley Clinical implications of a molecular genetic classification of monogenic beta-cell diabetes Nat. Clin. Pract. Endocrinol. Metab. 4 2008 200 213
15. M.E. Craig, C. Jefferies, D. Dabelea, N. Balde, A. Seth, and K.C. Donaghue Definition, epidemiology, and classification of diabetes in children and adolescents Pediatr. Diabetes 15 Suppl 20 2014 4 17
16. M.F. Folstein, S.E. Folstein, and P.R. McHugh "Mini-mental state". A practical method for grading the cognitive state of patients for the clinician J. Psychiatr. Res. 12 1975 189 198
17. M. Krieger, A. Roos, C. Stendel, K.G. Claeys, F.M. Sonmez, M. Baudis, P. Bauer, A. Bornemann, C. de Goede, and A. Dufke SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome Brain 136 2013 3634 3644
18. J. Senderek, M. Krieger, C. Stendel, C. Bergmann, M. Moser, N. Breitbach-Faller, S. Rudnik-Schöneborn, A. Blaschek, N.I. Wolf, and I. Harting Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy Nat. Genet. 37 2005 1312 1314
19. A.K. Anttonen, I. Mahjneh, R.H. Hämäläinen, C. Lagier-Tourenne, O. Kopra, L. Waris, M. Anttonen, T. Joensuu, H. Kalimo, and A. Paetau The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone Nat. Genet. 37 2005 1309 1311
20. L. Zhao, C. Rosales, K. Seburn, D. Ron, and S.L. Ackerman Alteration of the unfolded protein response modifies neurodegeneration in a mouse model of Marinesco-Sjögren syndrome Hum. Mol. Genet. 19 2010 25 35
21. M. Synofzik, D. Weiss, J. Erharhaghen, R. Krüger, and L. Schöls Severe orthostatic dysregulation associated with Wolfram syndrome J. Neurol. 257 2010 1751 1753
22. T.G. Barrett, S.E. Bundey, and A.F. Macleod Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome Lancet 346 1995 1458 1463