Mutation in BAG3 causes severe dominant childhood muscular dystrophy

Annals of Neurology

Volumn 65, Issue 1, 2009, Pages 83-89

  Selcen, Duygu ^a   Muntoni, Francesco ^b   Burton, Barbara K ^c   Pegoraro, Elena ^d   Sewry, Caroline ^b   Bite, Anna V ^a   Engel, Andrew G ^a  

^a MAYO CLINIC   (United States)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c CHILDREN'S MEMORIAL HOSPITAL   (United States)

^d UNIVERSITY OF PADOVA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

BAG 3 PROTEIN; LEUCINE; MUTANT PROTEIN; PROLINE; PROTEIN DERIVATIVE; UNCLASSIFIED DRUG;

ADOLESCENT; ANIMAL CELL; APOPTOSIS; ARTICLE; BAG3 GENE; CARDIOMYOPATHY; CELL STRAIN COS7; CHILDHOOD; CONTROLLED STUDY; DISEASE COURSE; ELECTRON MICROSCOPY; ELECTROPHORESIS; FEMALE; FIBROBLAST; GENE; GENE MUTATION; GENE SEQUENCE; HETEROZYGOTE; HISTOCHEMISTRY; HUMAN; HUMAN TISSUE; IMMUNOCYTOCHEMISTRY; KIDNEY; LIMB WEAKNESS; MAJOR CLINICAL STUDY; MALE; MONKEY; MOUSE; MUSCLE; MUSCLE WEAKNESS; MUSCULAR DYSTROPHY; MUTANT; MYOFIBRILLAR MYOPATHY; NONHUMAN; NUCLEOTIDE SEQUENCE; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL; PROTEIN AGGREGATION; RAT; RESPIRATORY FAILURE; SPINE; WILD TYPE;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADOLESCENT; ANIMALS; CERCOPITHECUS AETHIOPS; CHILD; COS CELLS; CRYSTALLINS; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; IN SITU NICK-END LABELING; MALE; MICROSCOPY, ELECTRON, TRANSMISSION; MUSCLE FIBERS, SKELETAL; MUSCLE PROTEINS; MUSCULAR DYSTROPHIES; MUTATION; TRANSFECTION;

EID: 60849131479     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.21553     Document Type: Article

References (34)

1. Goldfarb LG, Park KY, Cervenakova L, et al. Missense mutations in desmin associated with familial cardiac and skeletal myopathy. Nat Genet 1998;19:402-403.
2. Vicart P, Caron A, Guicheney P, et al. A missense mutation in the αB-crystallin chaperone gene causes a desmin-related myopathy. Nat Genet 1998;20:92-95.
3. Selcen D, Ohno K, Engel AG. Myofibrillar myopathy. Clinical, morphological, and genetic studies in 63 patients. Brain 2004; 127:439-451.
4. Selcen D, Engel AG. Mutations in myotilin cause myofibrillar myopathy. Neurology 2004;62:1363-1371.
5. Olive M, Goldfarb LG, Shatunov A, et al. Myotilinopathy: refining the clinical and myopathological phenotype. Brain 2005; 128:2315-2326.
6. Selcen D, Engel AG. Mutations in ZASP define a novel form of muscular dystrophy in humans. Ann Neurol 2005;57:269-276.
7. Vorgerd M, van der Ven PFM, Bruchertseifer V, et al. A mutation in the dimerization domain of filamin C causes a novel type of autosomal dominant myofibrillar myopathy. Am J Hum Genet 2005;77:297-304.
8. Nakano S, Engel AG, Waclawik AJ, et al. Myofibrillar myopathy with abnormal foci of desmin positivity. I. Light and electron microscopy analysis. J Neuropathol Exp Neurol 1996;55: 549-562.
9. De Bleecker JL, Engel AG, Ertl BB. Myofibrillar myopathy with abnormal foci of desmin positivity. II. Immunocytochemical analysis reveals accumulation of multiple other proteins. J Neuropathol Exp Neurol 1996;55:563-577.
10. Munoz-Mármol AM, Strasser G, Isamat M, et al. A dysfunctional desmin mutation in a patient with severe generalized myopathy. Proc Natl Acad Sci USA 1998;95:11312-11317.
11. Dalakas MC, Park KY, Semino-Mora C, et al. Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene. N Engl J Med 2000;342:770-780.
12. Selcen D, Engel AG. Myofibrillar myopathy caused by novel dominant negative αB-crystallin mutations. Ann Neurol 2003; 54:804-810.
13. Griggs RC, Vihola A, Hackman P, et al. Zaspopathy in a large classic late-onset distal myopathy family. Brain 2007;130: 1477-1484.
14. Schroder R, Vrabie A, Goebel HH. Primary desminopathies. J Cell Mol Med 2007;11:416-426.
15. Homma S, Iwasaki M, Shelton GD, et al. BAG3 deficiency results in fulminant myopathy and early lethality. Am J Pathol 2006;169:761-773.
16. Takayama S, Reed JC. Molecular chaperone targeting and regulation by BAG family proteins. Nat Cell Biol 2001;3: E237-E241.
17. Doong H, Vrailas A, Kohn EC. What's in the 'BAG'? A functional domain analysis of the BAG-family proteins. Cancer Lett 2002;188:25-32.
18. Carra S, Seguin SJ, Lambert H, et al. HspB8 chaperone activity toward poly(Q)-containing proteins depends on its association with Bag3, a stimulator of macroautophagy. J Biol Chem 2008; 283:1437-1444.
19. Engel AG. The muscle biopsy. In: Engel AG, Franzini-Armstrong C, eds. Myology. 3rd ed. New York: McGraw-Hill, 2004:681-690.
20. Goldfarb LG, Vicart P, Goebel HH, et al. Desmin myopathy. Brain 2004;127:723-734.
21. Bruey JM, Ducasse C, Bonniaud P, et al. Hsp27 negatively regulates cell death by interacting with cytochrome c. Nat Cell Biol 2000;2:645-652.
22. Antoku K, Maser RS, Scully WJ, et al. Isolation of Bcl-2 binding proteins that exhibit homology with BAG-1 and suppressor of death domains protein. Biochem Biophys Res Commun 2001;286:1003-1010.
23. Olson MOJ, Dundr M, Szebeni A. The nucleolus: an old factory with unexpected capabilities. Trends Cell Biol 2000;10: 189-196.
24. Simon S, Fontaine JM, Martin JL, et al. Myopathy-associated αB-crystallin mutants: abnormal phosphorylation, intracellular location, and interactions with other small heatshock proteins. J Biol Chem 2007;282:34276-34287.
25. Schara U, Kress W, Bönnemann CG, et al. The phenotype and long-term follow-up in 11 patients with juvenile selenoprotein N1-related myopathy. Eur J Paediatric Neurol 2008;12:224-230.
26. Schessl J, Zou Y, McGrath MJ, et al. Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy 2. J Clin Invest 2008;118:904-912.
27. De Visser M, van der Kooi AJ, Jöbsis GJ. Bethlem myopathy. In: Engel AG, Franzini-Armstrong C, eds. Myology. 3rd ed. New York: McGraw-Hill, 2004:1135-1146.
28. Mercuri E, Poppe M, Quinlivan R, et al. Extreme variability of phenotype in patients with an identical missense mutation in the Lamin A/C gene: from congenital onset with severe phenotype to milder classic Emery-Dreifuss variant. Arch Neurol 2004;61:690 -694.
29. Maraldi NM, Merlini L. Emery-Dreifuss muscular dystrophy. In: Engel AG, Franzini-Armstrong C, eds. Myology. 3rd ed. New York: McGraw-Hill, 2004:1027-1037.
30. Nagashima T, Chuma T, Mano Y, et al. Dysferlinopathy associated with rigid spine syndrome. Neuropathology 2004;24: 341-346.
31. Amato AA, Jackson CE, Lampkin S, et al. Myofibrillar myopathy: no evidence of apoptosis by TUNEL. Neurology 1999;52:861-863.
32. Liao Q, Ozawa F, Friess H, et al. The anti-apoptotic protein BAG-3 is overexpressed in pancreatic cancer and induced by heat stress in pancreatic cancer cell lines. FEBS Lett 2003;503:151-157.
33. Bonelli P, Petrella A, Rosati A, et al. BAG3 protein regulates stress-induced apoptosis in normal and neoplastic leukocytes. Leukemia 2004;18:358-360.
34. Peralvarez-Marin A, Lorenz-Fonfria VA, Simon-Vazquez R, et al. Influence of proline on the thermostability of the active site and membrane arrangement of transmembrane proteins. Biophys J (2008;95:4384-4395).