Genetic advances in sporadic inclusion body myositis

Current Opinion in Rheumatology

Volumn 27, Issue 6, 2015, Pages 586-594

  Gang, Qiang ^a   Bettencourt, Conceição ^a   Houlden, Henry ^a   Hanna, Michael G ^a   Machado, Pedro M ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Genetics; Inclusion body myopathies; Inclusion body myositis

Indexed keywords

APOLIPOPROTEIN E; APOLIPOPROTEIN E3; CYTOCHROME C OXIDASE; HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN; MITOCHONDRIAL DNA; VALOSIN CONTAINING PROTEIN; CARRIER PROTEIN; TOMM40 PROTEIN, HUMAN;

ARTICLE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HUMAN; INCLUSION BODY MYOSITIS; MAJOR HISTOCOMPATIBILITY COMPLEX; NEXT GENERATION SEQUENCING; PRIORITY JOURNAL; PROTEIN HOMEOSTASIS; RNA SEQUENCE; EXOME; GENETICS; MUTATION;

APOLIPOPROTEINS E; DNA, MITOCHONDRIAL; EXOME; GENOTYPE; HUMANS; MAJOR HISTOCOMPATIBILITY COMPLEX; MEMBRANE TRANSPORT PROTEINS; MUTATION; MYOSITIS, INCLUSION BODY;

EID: 84942508801     PISSN: 10408711     EISSN: 15316963     Source Type: Journal    
DOI: 10.1097/BOR.0000000000000213     Document Type: Article

References (48)

1. Gang Q, Bettencourt C, Machado P, et al. Sporadic inclusion body myositis: the genetic contributions to the pathogenesis. Orphanet Journal of Rare Diseases 2014; 9:88.
2. Machado PM, Dimachkie MM, Barohn RJ. Sporadic inclusion body myositis: new insights and potential therapy. Curr Opin Neurol 2014; 27:591-598.
3. Sivakumar K, Semino-Mora C, Dalakas MC. An inflammatory, familial, inclusion body myositis with autoimmune features and a phenotype identical to sporadic inclusion body myositis. Studies in three families. Brain 1997; 120 (Pt 4):653-661.
4. Tateyama M, Saito N, Fujihara K, et al. Familial inclusion body myositis: a report on two Japanese sisters. Internal Med (Tokyo, Japan) 2003; 42:1035-1038.
5. Ranque-Francois B, Maisonobe T, Dion E, et al. Familial inflammatory inclusion body myositis. Ann Rheum Dis 2005; 64:634-637.
6. Amato AA, Shebert RT. Inclusion body myositis in twins. Neurology 1998; 51:598-600.
7. Broccolini A, Mirabella M. Hereditary inclusion-body myopathies. Biochim Biophys Acta 2015; 1852:644-650.
8. Needham M, Mastaglia FL, Garlepp MJ. Genetics of inclusion-body myositis. Muscle Nerve 2007; 35:549-561.
9. Di Blasi C, Mora M, Pareyson D, et al. Partial laminin alpha2 chain deficiency in a patient with myopathy resembling inclusion body myositis. Ann Neurol 2000; 47:811-816.
10. Garlepp MJ, Laing B, Zilko PJ, et al. HLA associations with inclusion body myositis. Clin Exp Immunol 1994; 98:40-45.
11. Koffman BM, Sivakumar K, Simonis T, et al. HLA allele distribution distinguishes sporadic inclusion body myositis from hereditary inclusion body myopathies. J Neuroimmunol 1998; 84:139-142.
12. Badrising UA, Schreuder GM, Giphart MJ, et al. Associations with autoimmune disorders and HLA class I and II antigens in inclusion body myositis. Neurology 2004; 63:2396-2398.
13. Price P, Santoso L, Mastaglia F, et al. Two major histocompatibility complex haplotypes influence susceptibility to sporadic inclusion body myositis: critical evaluation of an association with HLA-DR3. Tissue Antigens 2004; 64:575-580.
14. O'Hanlon TP, Carrick DM, Arnett FC, et al. Immunogenetic risk and protective factors for the idiopathic inflammatory myopathies: distinct HLA-A, -B, -Cw, - DRB1 and -DQA1 allelic profiles and motifs define clinicopathologic groups in caucasians. Medicine 2005; 84:338-349.
15. Needham M, James I, Corbett A, et al. Sporadic inclusion body myositis: phenotypic variability and influence of HLA-DR3 in a cohort of 57 Australian cases. J Neurol Neurosurg Psychiatry 2008; 79:1056-1060.
16. Mastaglia FL, Needham M, Scott A, et al. Sporadic inclusion body myositis: HLA-DRB1 allele interactions influence disease risk and clinical phenotype. Neuromusc Disord 2009; 19:763-765.
17. Rojana-udomsart A, James I, Castley A, et al. High-resolution HLA-DRB1 genotyping in an Australian inclusion body myositis (s-IBM) cohort: an analysis of disease-associated alleles and diplotypes. J Neuroimmunol 2012; 250:77-82.
18. Scott AP, Allcock RJ, Mastaglia F, et al. Sporadic inclusion body myositis in Japanese is associated with the MHC ancestral haplotype 52.1. Neuromusc Disord 2006; 16:311-315.
19. Rojana-udomsart A, Mitrpant C, James I, et al. Analysis of HLA-DRB3 alleles and supertypical genotypes in the MHC class II region in sporadic inclusion body myositis. J Neuroimmunol 2013; 254:174-177.
20. Scott AP, Laing NG, Mastaglia F, et al. Investigation of NOTCH4 coding region polymorphisms in sporadic inclusion body myositis. J Neuroimmunol 2012; 250:66-70.
21. Mastaglia FL, Rojana-Udomsart A, James I, et al. Polymorphismin the TOMM40 gene modifies the risk of developing sporadic inclusion body myositis and the age of onset of symptoms. Neuromusc Disord 2013; 23:969-974.
22. Roses AD. An inherited variable poly-T repeat genotype in TOMM40 in Alzheimer disease. Arch Neurol 2010; 67:536-541.
23. Roses AD, Lutz MW, Amrine-Madsen H, et al. A TOMM40 variable-length polymorphism predicts the age of late-onset Alzheimer's disease. Pharmacogenom J 2010; 10:375-384.
24. Hansson Petersen CA, Alikhani N, Behbahani H, et al. The amyloid betapeptide is imported into mitochondria via the TOM import machinery and localized to mitochondrial cristae. Proc Natl Acad Sci U S A 2008; 105:13145-13150.
25. Gang Q, Bettencourt C, Machado PM, et al. The effects of an intronic polymorphism in TOMM40 and APOE genotypes in sporadic inclusion body myositis. Neurobiol Aging 2015; 36:1766.e1-1766.e3.
26. Weihl CC, Baloh RH, Lee Y, et al. Targeted sequencing and identification of genetic variants in sporadic inclusion body myositis. Neuromusc Disord 2015; 25:289-296.
27. Rohrer JD, Warren JD, Reiman D, et al. A novel exon 2 I27 V VCP variant is associated with dissimilar clinical syndromes. J Neurol 2011; 258:1494-1496.
28. Kimonis VE, Fulchiero E, Vesa J, Watts G. VCP disease associated with myopathy, Paget disease of bone and frontotemporal dementia: review of a unique disorder. Biochim Biophys Acta 2008; 1782:744-748.
29. Watts GD, Wymer J, Kovach MJ, et al. Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein. Nature Genet 2004; 36:377-381.
30. Kaleem M, Zhao A, Hamshere M, Myers AJ. Identification of a novel valosincontaining protein polymorphism in late-onset Alzheimer's disease. Neurodegen Dis 2007; 4:376-381.
31. Cai H, Yabe I, Sato K, et al. Clinical, pathological, and genetic mutation analysis of sporadic inclusion body myositis in Japanese people. J Neurol 2012; 259:1913-1922.
32. Brady S, Squier W, Sewry C, et al. A retrospective cohort study identifying the principal pathological features useful in the diagnosis of inclusion body myositis. Br Med J Open 2014; 4:e004552.
33. Oldfors A, Moslemi AR, Fyhr IM, et al. Mitochondrial DNA deletions in muscle fibers in inclusion body myositis. J Neuropathol Exp Neurol 1995; 54:581-587.
34. Santorelli FM, Sciacco M, Tanji K, et al. Multiple mitochondrial DNA deletions in sporadic inclusion body myositis: a study of 56 patients. Ann Neurol 1996; 39:789-795.
35. Kok CC, Boyt A, Gaudieri S, et al. Mitochondrial DNA variants in inclusion body myositis. Neuromusc Disord 2000; 10:604-611.
36. Oldfors A, Moslemi AR, Jonasson L, et al. Mitochondrial abnormalities in inclusion-body myositis. Neurology 2006; 66 (2 Suppl 1):S49-S55.
37. Lindgren U, Roos S, Hedberg Oldfors C, et al. Mitochondrial pathology in inclusion body myositis. Neuromusc Disord 2015; 25:281-288.
38. Rygiel KA, Miller J, Grady JP, et al. Mitochondrial and inflammatory changes in sporadic Inclusion Body Myositis. Neuropathol Appl Neurobiol 2015; 41:288-303.
39. Kim HJ, Kim NC, Wang YD, et al. Mutations in prion-likedomains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS. Nature 2013; 495:467-473.
40. Cortese A, Plagnol V, Brady S, et al. Widespread RNA metabolism impairment in sporadic inclusion body myositis TDP43-proteinopathy. Neurobiol Aging 2014; 35:1491-1498.
41. Pinkus JL, Amato AA, Taylor JP, Greenberg SA. Abnormal distribution of heterogeneous nuclear ribonucleoproteins in sporadic inclusion body myositis. Neuromusc Disord 2014; 24:611-616.
42. Seelen M, Visser AE, Overste DJ, et al. No mutations in hnRNPA1 and hnRNPA2B1 in Dutch patients with amyotrophic lateral sclerosis, frontotemporal dementia, and inclusion body myopathy. Neurobiol Aging 2014; 35:1956.e9-1956.e11.
43. Guerreiro R, Wojtas A, Bras J, et al. TREM2 variants in Alzheimer's disease. N Engl J Med 2013; 368:117-127.
44. Gang Q, Machado PM, Bettencourt C, et al. Using whole-exome sequencing to identify mutations of SQSTM1 and VCP in inclusion body myositis. Abstracts of the UK Neuromuscular Translational Research Conference 2015, 19th and 20th March 2015, Newcastle upon Tyne, UK. Neuromusc Disord 2015; 25:1-44.
45. Komatsu M, Kageyama S, Ichimura Y. p62/SQSTM1/A170: physiology and pathology. Pharmacol Res 2012; 66:457-462.
46. Madian AG, Wheeler HE, Jones RB, Dolan ME. Relating human genetic variation to variation in drug responses. Trends Genet 2012; 28:487-495.
47. Lee S, Abecasis GR, Boehnke M, Lin X. Rare-variant association analysis: study designs and statistical tests. Am J Hum Genet 2014; 95:5-23.
48. Newman WG, Black GC. Delivery of a clinical genomics service. Genes 2014; 5:1001-1017.