Abstract：
:Dysferlin is a newly identified sarcolemmal protein related to Miyoshi myopathy and limb-girdle muscular dystrophy. Although its function is still unknown, it is inferred from the presence of C2 domains and a transmembrane domain in its sequence that dysferlin may be expressed or located not only at the sarcolemma but also in other membranous organelles to interact with Ca(2+). Tubular aggregates (TAs) are derived from sarcoplasmic reticulum (SR) and found in various myopathies, especially in those related to disturbed intra-sarcoplasmic Ca(2+) homeostasis. To clarify the expression of dysferlin in TAs and the relationship among TA formation, dysferlin expression, and endoplasmic reticulum (ER) stress, we examined the expression of dysferlin and other sarcolemmal proteins by immunohistochemistry in 12 muscle biopsy specimens with TAs from 11 cases of periodic paralysis and 1 case of myalgia/cramps syndrome. Moreover, the expression of glucose-regulated protein 78 (GRP78) and GRP94, which are up-regulated under ER stress, was also examined by immunohistochemistry and immunoblotting. TAs showed strong expression of dysferlin. GRP78 and GRP94 were also intensely expressed in TAs. Total amounts of GRP78 and GRP94 were significantly increased in muscles with TAs compared with normal controls. These results indicate that muscles with TAs seem to be under ER stress, probably resulting from disturbed intra-sarcoplasmic Ca(2+) homeostasis. Strong expression of dysferlin in TAs suggests the possibility that it is located not only at the sarcolemma but also in the SR, at least in the pathological conditions.
journal_name
Acta Neuropatholjournal_title
Acta neuropathologicaauthors
Ikezoe K,Furuya H,Ohyagi Y,Osoegawa M,Nishino I,Nonaka I,Kira Jdoi
10.1007/s00401-003-0686-1subject
Has Abstractpub_date
2003-06-01 00:00:00pages
603-9issue
6eissn
0001-6322issn
1432-0533journal_volume
105pub_type
杂志文章abstract：:We recently examined the brain from an 8-month-old infant with Down's syndrome and found argyrophilic plaque-like deposits throughout the neocortex and cerebellum. To ascertain the specificity of this observation, we examined 27 additional brains from the pediatric autopsy service, including 1 from another patient wit...
journal_title：Acta neuropathologica
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journal_title：Acta neuropathologica
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journal_title：Acta neuropathologica
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更新日期：2005-01-01 00:00:00
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journal_title：Acta neuropathologica
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更新日期：1998-02-01 00:00:00
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journal_title：Acta neuropathologica
pub_type： 杂志文章
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更新日期：1988-01-01 00:00:00
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journal_title：Acta neuropathologica
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journal_title：Acta neuropathologica
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journal_title：Acta neuropathologica
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journal_title：Acta neuropathologica
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更新日期：1995-01-01 00:00:00
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journal_title：Acta neuropathologica
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journal_title：Acta neuropathologica
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更新日期：2018-11-01 00:00:00
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journal_title：Acta neuropathologica
pub_type： 杂志文章
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更新日期：1981-01-01 00:00:00
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