Genetics of inclusion body myopathies

Current Opinion in Rheumatology

Volumn 10, Issue 6, 1998, Pages 543-547

  Argov, Zohar ^a   Eisenberg, Iris ^a   Mitrani Rosenbaum, Stella ^a  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

HLA DR3 ANTIGEN;

AUTOIMMUNE DISEASE; CHROMOSOME 9P; DISEASE CLASSIFICATION; ETHNOLOGY; FAMILIAL DISEASE; GENETIC LINKAGE; GENETIC SUSCEPTIBILITY; GENETICS; HUMAN; INCLUSION BODY MYOSITIS; IRAN; MYOPATHY; PRIORITY JOURNAL; REVIEW;

CHROMOSOMES, HUMAN, PAIR 9; GENES, DOMINANT; GENES, RECESSIVE; GENETIC MARKERS; HUMANS; JEWS; MYOSITIS, INCLUSION BODY;

EID: 0031736409     PISSN: 10408711     EISSN: None     Source Type: Journal    
DOI: 10.1097/00002281-199811000-00006     Document Type: Review

References (34)

1. Criggs RC, Askanas V, DiMauro S, Engel A, Karpati G, Mendell JR, Rowland LP: Inclusion body myositis and myopathies. Ann Neurol 1995, 38:705-715.
2. Sivakumar K, Semino-Mora C, Dlakas MC: An inflammatory, familial inclusion body myositis with autoimmune features and a phenotype identical to sporadic inclusion body myositis. Brain 1997, 120:653-661. Describes the clinical features of familial occurrence of IBM. The immunogenetic studies show a common DR3 allele in the patients. The paper discusses the topic of predisposition to autoimmunity in s-IBM.
3. Nauman NM, Reichmann H, Goebel HH, Moll C, Toyka KV: Glucocorticoid-sensitive hereditary inclusion body myositis. J Neurol 1996, 243:126-130.
4. Rider LG, Gurley RC, Pandey JP, de la Torre IG, Kalovidouris AE, O'hanlon TP, et al.: Clinical, serologic, and immunogenetic features of familial idopathic inflammatory myopathy. Arthritis Rheum 1998, 41:710-719.
5. Garlepp MJ, Laing B, Zilko PJ, Ollier W, Mastaglia FL: HLA association with inclusion body myositis. Clin Exp Immunol 1994, 98:40-45.
6. Fyhr IM, Moslemi AR, Mosavi AA, Lindberg C, Tarkowski A, Oldorfs A: Oligoclonal expansion of muscle infiltrating T cells in inclusion body myositis. J Neuroimmunol 1997, 79:185-189. This work shows that the T cells invading the fibers in s-IBM are oligoclonal in nature, supporting an antigen-mediated process. This process is suggested to be autoimmune by confirming the DR3 presence in the studied patients. It lends further support to the possible genetic predisposition of s-IBM.
7. Schelesinger I, Softer D, Lossos A, Meiner Z, Argov Z: Inclusion body myositis: atypical clinical presentations. Eur Neurol 1996, 36:89-93.
8. Garlepp MJ, Tabarias H, van-Bockxmeer FM, Zilko PJ, Laing B, Mastaglia FL: Apolipoprotein E epsilon 4 in inclusion body myositis. Ann Neurol 1995, 38:957-959.
9. Harrington CR, Anderson JR, Chan KK: Apolipoprotein E type *epsilon*4 allele frequency is not increased in patients with sporadic inclusion-body myositis. Neurosci Lett 1995, 183:35-38.
10. Askanas V, Engel K, Mirabella M, Weisgraber KH, Saunders AM, Roses AD, McFerrin J: Apolipoprotein E alleles in sporadic inclusion-body myositis and hereditary inclusion-body myopathy. Ann Neurol 1996, 40:264.
11. Argov Z, Sadeh M: Recessively-inherited inclusion body myopathies: clinical and laboratory features. Acta Miologica 1998, 1:41-44.
12. Sivakumar K, Dalakas MC: The spectrum of familial inclusion body myopathies in 13 families and a description of a quadriceps-sparing phenotype in non-Iranian Jews. Neurology 1996, 47:977-984.
13. Neville HE, Baumbach LL, Ringel SP, Russo LS, Sujansky E, Garcia CA: familial inclusion body myositis: evidence for autosomal dominant inheritance. Neurology 1992, 42:897-902.
14. McKee D, Karpati G, Johnson W, Carpenter S: Familial inclusion body myositis (IBM) mimics facioscapulohumeral dystrophy (FSHD). Neurology 1992, 42 (suppl): A302.
15. Oldfors A, Darin N, Wahlstrom J, Kylleman M: Early onset autosomal dominant myopathy with external ophthalmoplegia and rimmed vacuoles in muscle fibers. Acta Myologia 1997, 1:35.
16. Borg K, Ahlberg G, Borg J, Edstrom L: Welander's distal myopathy: clinical, neurophysiologcal and muscle biopsy observations in young and middle-aged adults with early symptoms. J Neurol Neurosurg Psych 1991, 54:494-498.
17. Udd B, Partanen J, Halonen P, Falck B, Hakamies L, Heikkila H, et al.: Tibial muscular dystrophy: late adult onset distal myopathy in 66 Finnish patients. Arch Neurol 1993, 50:604-608.
18. Sadeh M, Argov Z: Hereditary inclusion body myopathy in Jews of Persian origin: clinical and laboratory data. In Inclusion Body Myositis and Myopathies. Edited by Askanas V, Engel WK, Serratrice G. Cambridge: Cambridge Press; 1997:191-199. This chapter summarizes the clinical features of the unique quadriceps-sparing myopathy in Iranian Jews. However, the same features are known to exist rarely in other communities, and their recognition will enhance correct diagnosis.
19. Argov Z, Yarom R: "Rimmed vacuole myopathy" sparing the quadriceps: a unique disorder in Iranian Jews. J Neurol Sci 1984, 64:33-43.
20. Argov Z, Mitrani-Rosenbaum S: Hereditary inclusion body myopathy (H-IBM) with quadriceps sparing: epidemiology and genetics. In Inclusion Body Myositis and Myopathies. Edited by Askanas V, Engel WK, Serratrice G. Cambridge: Cambridge Press; 1997:200-210.
21. Sadeh M, Gadoth M, Hadar H, Ben David E: Vacuolar myopathy sparing the quadriceps. Brain 1993, 16:217-232.
22. Argov Z, Tiram E, Eisenberg I, Sadeh M, Seidman CE, Seidman JG, et al.: Various types of hereditary inclusion body myopathies map to chromosome 9p1-q1. Ann Neurol 1997, 41:548-551. This work extends the original linkage description by showing that recessive HIBM maps to chromosome 9p1-q1 in various Middle Eastern Jewish communities. It also shows that the same site is involved in a similar clinical disorder in a non-Jewish family of east Indian descent. On the other hand, HIBM with brain involvement is not linked to the same site.
23. Bertorini TE, Horner LH, Halford H: Characteristics of magnetic resonance imaging in limb and axial weakness in myopathies. Neurology 1996, 46(suppl):A345.
24. Askanas V, Engel WK: Recent progress and classification of the hereditary inclusion-body myopathies. Acta Miologia 1998, 1:21-25.
25. Argov Z, Sadeh M, Eisenberg I, Karpati G, Mitrani-Rosenbaum S: Facial involvement in hereditary inclusion body myositis. Neurology 1998, 50:1925-1926. This short report, to be published in June 1998, further defines the chromosome 9p1-q1 spectrum of HIBM syndromes by showing that a clinical variant of quadriceps-sparing myopathy with facial weakness is linked to this site in Egyptian Jews but not French Canadians.
26. Nonaka I, Sunohara N, Ishiura S, Satayoshi E: Familial distal myopathy with rimmed vacuoles and lamellar (myeloid) body formation. J Neurol Sci 1981, 51:141-145.
27. Cole AJ, Kuzniecky RR, Karpati G, Carpenter S, Andermann E, Andermann F: Familial myopathy with changes resembling inclusion body myositis and periventicular leucoencephalopathy. Brain 1988, 11:1025-1037.
28. Hentati F, Ben Hamida C, Tome F, Queslati F, Fardeau M, Ben Hamida M: Familial inclusion body myositis sparing the quadriceps with asymptomatic leukoencephalopathy in a Tunisian kindred. Neurology 1991, 41 (suppl 1):422
29. Mitrani-Rosenbaum S, Argov Z, Blumenfeld A, Seidman CE, Seidman JG: Hereditary Inclusion Body Myopathy maps to chromosome 9p1-q1. Hum Mol Genet 1996, 5:159-163.
30. Eisenberg I, Thiel C, Levi T, Tiram E, Argov Z, Sadeh M, et al.: Fine structure mapping of the hereditary inclusion body myopathy locus. Am J Hum Gen 1998, in press. This paper describes the current status of the gene search for HIBM in Middle Eastern Jews. It shows which microsatellite markers give the maximal LOD score and the maximal linkage disequilibrium. It locates the HIBM gene in a 1-megabase interval.
31. Thierfelder L, Watkins H, MacRae C, Lamas R, McKenna WJ, Vosberg H-P, et al.: Alpha tropomyosin and troponin mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. Cell 1994, 77:701-712.
32. Laing NG, Wilton SD, Akkari PA, Dorosz S, Boundy K, Kneebone C, et al.: A mutation in the alpha tropomyosin gene TMP3 associated with autosomal dominant nemaline myopathy. Nat Genet 1995, 9:75-79.
33. Ikeuchi T, Asaka T, Saito M, Tanaka H, Higuchi S, Tanaka K, et al.: Gene locus for autosomal recessive distal myopathy with rimmed vacuoles maps to chromosome 9. Ann Neurol 1997, 41:432-437. This work shows that a unique distal myopathy cluster in Japan, phenotypically different from quadriceps-sparing HIBM, maps to chromosome 9p1-q1. It suggests that this disease is an allelic variation of the disorder in Iranian Jews and probably results from a defect in the same gene.
34. Haravuori H, Makela-Bengs P, Udd B, Partanen J, Pulkkinen L, Somer H, Peltonen L: Assignment of the tibial muscular dystrophy locus to chromosome 2q31. Am J Hum Genet 1998, 62:620-626. This distal myopathy shares some pathological features with HIBM. Thus, the finding of a new defective genetic site leading to similar pathological alterations may indicate a common mechanism by different proteins sharing the same function. The work suggest the large gene to be titin.