The novel αB-crystallin (CRYAB) mutation p.D109G causes restrictive cardiomyopathy

Human Mutation

Volumn 38, Issue 8, 2017, Pages 947-952

  Brodehl, Andreas ^a   Gaertner Rommel, Anna ^a   Klauke, Bärbel ^a   Grewe, Simon Andre ^a   Schirmer, Ilona ^a   Peterschröder, Andreas ^a   Faber, Lothar ^a   Vorgerd, Matthias ^b   Gummert, Jan ^a   Anselmetti, Dario ^c   Schulz, Uwe ^a   Paluszkiewicz, Lech ^a   Milting, Hendrik ^a  

^a RUHR UNIVERSITY BOCHUM   (Germany)

^b RUHR UNIVERSITY BOCHUM   (Germany)

^c BIELEFELD UNIVERSITY   (Germany)

Author keywords

hypertrophic cardiomyopathy; intermediate filaments; restrictive cardiomyopathy; small heat shock proteins; B crystallin

Indexed keywords

ALPHA ACTININ; ALPHA CRYSTALLIN; COMPLEMENTARY DNA; CYTOPLASM PROTEIN; DESMIN; GENOMIC DNA; CRYAB PROTEIN, HUMAN;

ARTICLE; CAENORHABDITIS ELEGANS; CELL FUNCTION; DISEASE SEVERITY; DROSOPHILA MELANOGASTER; GENE FREQUENCY; GENETIC SCREENING; GENETIC TRANSFECTION; HEART; HUMAN; HUMAN TISSUE; IN VITRO STUDY; MISSENSE MUTATION; MOUSE; NEXT GENERATION SEQUENCING; NONHUMAN; ONSET AGE; PHENOTYPE; PLASMID; PREDICTION; PRIORITY JOURNAL; PROTEIN AGGREGATION; PROTEIN BINDING; PROTEIN EXPRESSION; PROTEIN FOLDING; RESTRICTIVE CARDIOMYOPATHY; SANGER SEQUENCING; ADULT; CASE REPORT; GENETICS; HIGH THROUGHPUT SEQUENCING; MALE; PEDIGREE; YOUNG ADULT;

ADULT; ALPHA-CRYSTALLIN B CHAIN; CARDIOMYOPATHY, RESTRICTIVE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; MUTATION, MISSENSE; PEDIGREE; YOUNG ADULT;

EID: 85021218719     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.23248     Document Type: Article

References (42)

1. Arbustini, E., Pasotti, M., Pilotto, A., Pellegrini, C., Grasso, M., Previtali, S., … Tavazzi, L. (2006). Desmin accumulation restrictive cardiomyopathy and atrioventricular block associated with desmin gene defects. European Journal of Heart Failure, 8, 477–483.
2. Bagnéris, C., Bateman, O. A., Naylor, C. E., Cronin, N., Boelens, W. C., Keep, N. H., & Slingsby, C. (2009). Crystal structures of alpha-crystallin domain dimers of alphaB-crystallin and Hsp20. Journal of Molecular Biology, 392, 1242–1252.
3. Bergen, A. A., Plomp, A. S., Schuurman, E. J., Terry, S., Breuning, M., Dauwerse, H., … de Jong, P. T. (2000). Mutations in ABCC6 cause pseudoxanthoma elasticum. Nature Genetics, 25, 228–231.
4. Bova, M. P., Yaron, O., Huang, Q., Ding, L., Haley, D. A., Stewart, P. L., & Horwitz, J. (1999). Mutation R120G in alphaB-crystallin, which is linked to a desmin-related myopathy, results in an irregular structure and defective chaperone-like function. Proceedings of the National Academy of Sciences of the United States of America, 96, 6137–6142.
5. Braun, N., Zacharias, M., Peschek, J., Kastenmüller, A., Zou, J., Hanzlik, M., … Weinkauf, S. (2011). Multiple molecular architectures of the eye lens chaperone αB-crystallin elucidated by a triple hybrid approach. Proceedings of the National Academy of Sciences of the United States of America, 108, 20491–20496.
6. Brodehl, A., Belke, D. D., Garnett, L., Martens, K., Abdelfatah, N., Rodriguez, M., … Gerull, B. (2017). Transgenic mice overexpressing desmocollin-2 (DSC2) develop cardiomyopathy associated with myocardial inflammation and fibrotic remodeling. PLoS One, 12, e0174019.
7. Brodehl, A., Ferrier, R. A., Hamilton, S. J., Greenway, S. C., Brundler, M., Yu, W., …, Gerull, B. (2016). Mutations in FLNC are associated with familial restrictive cardiomyopathy. Human Mutation, 37, 269–279.
8. Bullard, B., Ferguson, C., Minajeva, A., Leake, M. C., Gautel, M., Labeit, D., … Linke, W. A. (2004). Association of the chaperone alphaB-crystallin with titin in heart muscle. The Journal of Biological Chemistry, 279, 7917–7924.
9. Christians, E. S., Ishiwata, T., & Benjamin, I. J. (2012). Small heat shock proteins in redox metabolism: Implications for cardiovascular diseases. The International Journal of Biochemistry & Cell Biology, 44, 1632–1645.
10. Clark, A. R., Naylor, C. E., Bagnéris, C., Keep, N. H., & Slingsby, C. (2011). Crystal structure of R120G disease mutant of human αB-crystallin domain dimer shows closure of a groove. Journal of Molecular Biology, 408, 118–134.
11. Diokmetzidou, A., Soumaka, E., Kloukina, I., Tsikitis, M., Makridakis, M., Varela, A., … Capetanaki, Y. (2016). Desmin and αB-crystallin interplay in the maintenance of mitochondrial homeostasis and cardiomyocyte survival. Journal of Cell Science, 129, 3705–3720.
12. Elliott, J. L., Der Perng, M., Prescott, A. R., Jansen, K. A., Koenderink, G. H., & Quinlan, R. A. (2013). The specificity of the interaction between αB-crystallin and desmin filaments and its impact on filament aggregation and cell viability. Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 368, 20120375.
13. Fichna, J. P., Potulska-Chromik, A., Miszta, P., Redowicz, M. J., Kaminska, A. M., Zekanowski, C., & Filipek, S. (2017). A novel dominant D109A CRYAB mutation in a family with myofibrillar myopathy affects αB-crystallin structure. BBA Clinical, 7, 1–7.
14. Hager, S., Mahrholdt, H., Goldfarb, L. G., Goebel, H. H., & Sechtem, U. (2006). Images in cardiovascular medicine. Giant right atrium in the setting of desmin-related restrictive cardiomyopathy. Circulation, 113, e53–e55.
15. Hellenthal, N., Gaertner-Rommel, A., Klauke, B., Paluszkiewicz, L., Stuhr, M., Kerner, T., … Milting, H. (2016). Molecular autopsy of sudden unexplained deaths reveals genetic predispositions for cardiac diseases among young forensic cases. Europace, euw247. https://doi.org/10.1093/europace/euw247
16. Hesse, A., Altland, K., Linke, R. P., Almeida, M. R., Saraiva, M. J., Steinmetz, A., & Maisch, B. (1993). Cardiac amyloidosis: A review and report of a new transthyretin (prealbumin) variant. British Heart Journal, 70, 111–115.
17. Hishiya, A., Salman, M. N., Carra, S., Kampinga, H. H., & Takayama, S. (2011). BAG3 directly interacts with mutated alphaB-crystallin to suppress its aggregation and toxicity. PLoS One, 6, e16828.
18. Hussein, R. M., Benjamin, I. J., & Kampinga, H. H. (2015). Rescue of αB crystallin (HSPB5) mutants associated protein aggregation by co-expression of HSPB5 partners. PLoS One, 10, e0126761.
19. Inagaki, N., Hayashi, T., Arimura, T., Koga, Y., Takahashi, M., Shibata, H., … Kimura, A. (2006). Alpha B-crystallin mutation in dilated cardiomyopathy. Biochemical and Biophysical Research Communications, 342, 379–386.
20. Jehle, S., Rajagopal, P., Bardiaux, B., Markovic, S., Kühne, R., Stout, J. R., … Oschkinat, H. (2010). Solid-state NMR and SAXS studies provide a structural basis for the activation of alphaB-crystallin oligomers. Nature Structural & Molecular Biology, 17, 1037–1042.
21. Karam, S., Raboisson, M., Ducreux, C., Chalabreysse, L., Millat, G., Bozio, A., & Bouvagnet, P. (2008). A de novo mutation of the beta cardiac myosin heavy chain gene in an infantile restrictive cardiomyopathy. Congenital Heart Disease, 3, 138–143.
22. Kaski, J. P., Syrris, P., Burch, M., Tomé-Esteban, M., Fenton, M., Christiansen, M., … Elliott, P. M. (2008). Idiopathic restrictive cardiomyopathy in children is caused by mutations in cardiac sarcomere protein genes. Heart (British Cardiac Society), 94, 1478–1484.
23. Konersman, C. G., Bordini, B. J., Scharer, G., Lawlor, M. W., Zangwill, S., Southern, J. F., … Collins, M. P. (2015). BAG3 myofibrillar myopathy presenting with cardiomyopathy. Neuromuscular Disorders: NMD, 25, 418–422.
24. Kostareva, A., Kiselev, A., Gudkova, A., Frishman, G., Ruepp, A., Frishman, D., … Shlyakhto, E. (2016). Genetic spectrum of idiopathic restrictive cardiomyopathy uncovered by next-generation sequencing. PLoS One, 11, e0163362.
25. Lewis-Smith, D. J., Duff, J., Pyle, A., Griffin, H., Polvikoski, T., Birchall, D., … Chinnery, P. F. (2016). Novel HSPB1 mutation causes both motor neuronopathy and distal myopathy. Neurology Genetics, 2, e110.
26. Liu, Y., Zhang, X., Luo, L., Wu, M., Zeng, R., Cheng, G., … Shang, F. (2006). A novel alphaB-crystallin mutation associated with autosomal dominant congenital lamellar cataract. Investigative Ophthalmology & Visual Science, 47, 1069–1075.
27. Mogensen, J., Kubo, T., Duque, M., Uribe, W., Shaw, A., Murphy, R.,.. McKenna, W. J. (2003). Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations. The Journal of Clinical Investigation, 111, 209–216.
28. Musumeci, M. B., Semprini, L., Casenghi, M., Montesanti, D., Mastromarino, V., Socciarelli, F.,.. Autore, C. (2014). Restrictive cardiomyopathy and pseudoxanthoma elasticum skin lesions. Journal of Cardiovascular Medicine (Hagerstown, Md.), 17, e193–e195.
29. Navarro-Lopez, F., Llorian, A., Ferrer-Roca, O., Betriu, A., & Sanz, G. (1980). Restrictive cardiomyopathy in pseudoxanthoma elasticum. Chest, 78, 113–115.
30. Peddy, S. B., Vricella, L. A., Crosson, J. E., Oswald, G. L., Cohn, R. D., Cameron, D. E.,.. Loeys, B. L. (2006). Infantile restrictive cardiomyopathy resulting from a mutation in the cardiac troponin T gene. Pediatrics, 117, 1830–1833.
31. Peled, Y., Gramlich, M., Yoskovitz, G., Feinberg, M. S., Afek, A., Polak-Charcon, S.,.. Arad, M. (2014). Titin mutation in familial restrictive cardiomyopathy. International Journal of Cardiology, 171, 24–30.
32. Ploski, R., Rydzanicz, M., Ksiazczyk, T. M., Franaszczyk, M., Pollak, A., Kosinska, J.,.. Werner, B. (2016). Evidence for troponin C (TNNC1) as a gene for autosomal recessive restrictive cardiomyopathy with fatal outcome in infancy. American Journal of Medical Genetics, Part A, 170, 3241–3248.
33. Rajasekaran, N. S., Connell, P., Christians, E. S., Yan, L. J., Taylor, R. P., Orosz, A.,.. Benjamin, I. J. (2007). Human alpha B-crystallin mutation causes oxido-reductive stress and protein aggregation cardiomyopathy in mice. Cell, 130, 427–439.
34. Raju, I., & Abraham, E. C. (2013). Mutants of human αB-crystallin cause enhanced protein aggregation and apoptosis in mammalian cells: Influence of co-expression of HspB1. Biochemical and Biophysical Research Communications, 430, 107–112.
35. Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J.,.. Rehm, H. L. (2015). Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genetics in Medicine, 17, 405–424.
36. Rubiś, P., Rudnicka-Sosin, L., Jurczyszyn, A., Janion, M., & Podolec, P. (2016). The paramount importance of repeated left ventricular endomyocardial biopsy during the diagnosis of restrictive cardiomyopathy due to AL cardiac amyloidosis. Kardiologia Polska, 74, 796.
37. Sacconi, S., Féasson, L., Antoine, J. C., Pécheux, C., Bernard, R., Cobo, A. M.,.. Urtizberea, A. (2012). A novel CRYAB mutation resulting in multisystemic disease. Neuromuscular Disorders, 22, 66–72.
38. Schulz, V., Hendig, D., Henjakovic, M., Szliska, C., Kleesiek, K., & Götting, C. (2006). Mutational analysis of the ABCC6 gene and the proximal ABCC6 gene promoter in German patients with pseudoxanthoma elasticum (PXE). Human Mutation, 27, 831.
39. Towbin, J. A. (2014). Inherited cardiomyopathies. Circulation Journal, 78, 2347–2356.
40. Vicart, P., Caron, A., Guicheney, P., Li, Z., Prévost, M. C., Faure, A.,.. Fardeau, M. (1998). A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy. Nature Genetics, 20, 92–95.
41. Wu, W., Lu, C., Wang, Y., Liu, F., Chen, W., Liu, Y.,.. Zhang, X. (2015). Novel phenotype-genotype correlations of restrictive cardiomyopathy with myosin-binding protein C (MYBPC3) gene mutations tested by next-generation sequencing. Journal of the American Heart Association, 4(7). pii:e001879.
42. Xia, X., Wu, Q., An, L., Li, W., Li, N., Li, T.,.. Xue, C. (2014). A novel P20R mutation in the alpha-B crystallin gene causes autosomal dominant congenital posterior polar cataracts in a Chinese family. BMC Ophthalmology, 14, 108.