Autophagic vacuolar pathology in desminopathies

Neuromuscular Disorders

Volumn 25, Issue 3, 2015, Pages 199-206

  Weihl, Conrad C ^a   Iyadurai, Stanley ^b   Baloh, Robert H ^c   Pittman, Sara K ^a   Schmidt, Robert E ^a   Lopate, Glenn ^a   Pestronk, Alan ^a   Harms, Matthew B ^a  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b THE OHIO STATE UNIVERSITY COLLEGE OF MEDICINE   (United States)

^c CEDARS SINAI MEDICAL CENTER   (United States)

Author keywords

Autophagy; Desmin; Myofibrillar myopathy; Protein aggregation

Indexed keywords

DESMIN;

ADULT; ARTICLE; AUTOPHAGIC VACUOLAR MYOPATHY; AUTOPHAGIC VACUOLE; CASE REPORT; CELL VACUOLE; CONGESTIVE CARDIOMYOPATHY; DEFIBRILLATION; DES GENE; DESMINOPATHY; FAMILY HISTORY; FEMALE; GENE MUTATION; HEART FAILURE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; LIMB WEAKNESS; MALE; MIDDLE AGED; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE STRENGTH; MYOPATHY; PERONEUS NERVE PARALYSIS; PRIORITY JOURNAL; REFLEX DISORDER; AGED; CARDIOMYOPATHY; DNA SEQUENCE; ELECTRON MICROSCOPY; FAMILY; GENETICS; HAND; IMMUNOHISTOCHEMISTRY; LYSOSOME STORAGE DISEASE; MUSCLE DISEASE; MUSCULAR DYSTROPHY; MUTATION; PATHOLOGY; PATHOPHYSIOLOGY; PEDIGREE; SKELETAL MUSCLE;

ADULT; AGED; CARDIOMYOPATHIES; DESMIN; FAMILY; FEMALE; HAND; HUMANS; IMMUNOHISTOCHEMISTRY; LYSOSOMAL STORAGE DISEASES; MALE; MICROSCOPY, ELECTRON; MIDDLE AGED; MUSCLE, SKELETAL; MUSCULAR DISEASES; MUSCULAR DYSTROPHIES; MUTATION; PEDIGREE; SEQUENCE ANALYSIS, DNA;

EID: 84924295587     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2014.12.002     Document Type: Article

References (30)

1. Nishino I. Autophagic vacuolar myopathy. Semin Pediatr Neurol 2006, 13:90-95.
2. Sugie K., Noguchi S., Kozuka Y., et al. Autophagic vacuoles with sarcolemmal features delineate Danon disease and related myopathies. J Neuropathol Exp Neurol 2005, 64:513-522.
3. Ramachandran N., Munteanu I., Wang P., et al. VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy. Acta Neuropathol 2013, 125:439-457.
4. Cortese A., Tucci A., Piccolo G., et al. Novel CLN3 mutation causing autophagic vacuolar myopathy. Neurology 2014, 82:2072-2076.
5. Nishino I., Fu J., Tanji K., et al. Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease). Nature 2000, 406:906-910.
6. Kley R.A., Serdaroglu-Oflazer P., Leber Y., et al. Pathophysiology of protein aggregation and extended phenotyping in filaminopathy. Brain 2012, 135:2642-2660.
7. Temiz P., Weihl C.C., Pestronk A. Inflammatory myopathies with mitochondrial pathology and protein aggregates. J Neurol Sci 2009, 278:25-29.
8. Ju J.S., Fuentealba R.A., Miller S.E., et al. Valosin-containing protein (VCP) is required for autophagy and is disrupted in VCP disease. J Cell Biol 2009, 187:875-888.
9. McDonald K.K., Stajich J., Blach C., Ashley-Koch A.E., Hauser M.A. Exome analysis of two limb-girdle muscular dystrophy families: mutations identified and challenges encountered. PLoS ONE 2012, 7:e48864.
10. Goudeau B., Rodrigues-Lima F., Fischer D., et al. Variable pathogenic potentials of mutations located in the desmin alpha-helical domain. Hum Mutat 2006, 27:906-913.
11. Clemen C.S., Herrmann H., Strelkov S.V., Schroder R. Desminopathies: pathology and mechanisms. Acta Neuropathol 2013, 125:47-75.
12. Goebel H.H. Desmin-related myopathies. Curr Opin Neurol 1997, 10:426-429.
13. Selcen D., Ohno K., Engel A.G. Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients. Brain 2004, 127:439-451.
14. Shinde A., Nakano S., Sugawara M., et al. Expression of caveolar components in primary desminopathy. Neuromuscul Disord 2008, 18:215-219.
15. De Bleecker J.L., Engel A.G., Winkelmann J.C. Localization of dystrophin and beta-spectrin in vacuolar myopathies. Am J Pathol 1993, 143:1200-1208.
16. Fernandez C., Figarella-Branger D., Alla P., Harle J.R., Pellissier J.F. Colchicine myopathy: a vacuolar myopathy with selective type I muscle fiber involvement. An immunohistochemical and electron microscopic study of two cases. Acta Neuropathol 2002, 103:100-106.
17. Bar H., Goudeau B., Walde S., et al. Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies. Hum Mutat 2007, 28:374-386.
18. Vattemi G., Neri M., Piffer S., et al. Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy. Acta Myol 2011, 30:121-126.
19. Otten E., Asimaki A., Maass A., et al. Desmin mutations as a cause of right ventricular heart failure affect the intercalated disks. Heart Rhythm 2010, 7:1058-1064.
20. Hong D., Wang Z., Zhang W., et al. A series of Chinese patients with desminopathy associated with six novel and one reported mutations in the desmin gene. Neuropathol Appl Neurobiol 2011, 37:257-270.
21. Pica E.C., Kathirvel P., Pramono Z.A., Lai P.S., Yee W.C. Characterization of a novel S13F desmin mutation associated with desmin myopathy and heart block in a Chinese family. Neuromuscul Disord 2008, 18:178-182.
22. Bergman J.E., Veenstra-Knol H.E., van Essen A.J., et al. Two related Dutch families with a clinically variable presentation of cardioskeletal myopathy caused by a novel S13F mutation in the desmin gene. Eur J Med Genet 2007, 50:355-366.
23. Hollrigl A., Hofner M., Stary M., Weitzer G. Differentiation of cardiomyocytes requires functional serine residues within the amino-terminal domain of desmin. Differentiation 2007, 75:616-626.
24. Clemen C.S., Fischer D., Reimann J., et al. How much mutant protein is needed to cause a protein aggregate myopathy in vivo? Lessons from an exceptional desminopathy. Hum Mutat 2009, 30:E490-E499.
25. Vicart P., Caron A., Guicheney P., et al. A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy. Nat Genet 1998, 20:92-95.
26. Tannous P., Zhu H., Johnstone J.L., et al. Autophagy is an adaptive response in desmin-related cardiomyopathy. Proc Natl Acad Sci U S A 2008, 105:9745-9750.
27. Zheng Q., Su H., Ranek M.J., Wang X. Autophagy and p62 in cardiac proteinopathy. Circ Res 2011, 109:296-308.
28. Pattison J.S., Osinska H., Robbins J. Atg7 induces basal autophagy and rescues autophagic deficiency in CryABR120G cardiomyocytes. Circ Res 2011, 109:151-160.
29. Zhang H., Rajasekaran N.S., Orosz A., Xiao X., Rechsteiner M., Benjamin I.J. Selective degradation of aggregate-prone CryAB mutants by HSPB1 is mediated by ubiquitin-proteasome pathways. J Mol Cell Cardiol 2010, 49:918-930.
30. Bhuiyan M.S., Pattison J.S., Osinska H., et al. Enhanced autophagy ameliorates cardiac proteinopathy. J Clin Invest 2013, 123:5284-5297.