|
rdf:type |
|
|
lifeskim:mentions |
umls-concept:C0013852,
umls-concept:C0023693,
umls-concept:C0026848,
umls-concept:C0027121,
umls-concept:C0030705,
umls-concept:C0205161,
umls-concept:C0205288,
umls-concept:C0205422,
umls-concept:C0242697,
umls-concept:C0299212,
umls-concept:C1418985
|
|
pubmed:issue |
4
|
|
pubmed:dateCreated |
1998-4-28
|
|
pubmed:abstractText |
Sporadic inclusion-body myositis (s-IBM) is the most common progressive muscle disease of older persons. The muscle biopsy demonstrates mononuclear cell inflammation and vacuolated muscle fibers containing paired helical filaments and 6- to 10-nm fibrils, both resembling those of Alzheimer disease brain and Congo red positivity. The term hereditary inclusion-body myopathies (h-IBMs) designates autosomal-recessive or autosomal-dominant disorders with muscle biopsies cytopathologically similar to s-IBM but without inflammation. Vacuolated muscle fibers of both s-IBM and the h-IBMs contain accumulations of several "Alzheimer-characteristic proteins" including beta-amyloid protein and beta-amyloid precursor protein, and their paired helical filaments are composed of phosphorylated tau. We used six well characterized antibodies against several residues of presenilin 1 (PS1) to immunostain muscle biopsies of 12 patients with s-IBM, 5 patients with autosomal-recessive inclusion-body myopathy, and 16 normal and disease controls. Seventy to eighty percent of the vacuolated muscle fibers of both s-IBM and autosomal-recessive inclusion-body myopathy had inclusions that were strongly PS1-immunoreactive, which by immunoelectron microscopy localized mainly to paired helical filaments and 6- to 10-nm filaments. None of the control biopsies had PS1-positive inclusions characteristic of the s- and h-IBM abnormal muscle fibers. Mutations of the newly discovered PS1 gene are responsible for early-onset familial Alzheimer disease (AD), and PS1 is abnormally accumulated in sporadic and familial AD brain. Our study provides the first demonstration of PS1 abnormality in non-neural tissue and in diseases other than AD and suggests that the cytopathogenesis in AD brain and IBM muscle may share similarities.
|
|
pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/9546349-1321564,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9546349-14079951,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9546349-1625800,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9546349-1660975,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9546349-1668977,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9546349-2437579,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9546349-4875469,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9546349-73232,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9546349-7475795,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9546349-7566091,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9546349-7692809,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9546349-7977635,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9546349-8117535,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9546349-8170582,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9546349-8291607,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9546349-8386897,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9546349-8394158,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9546349-8577761,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9546349-8602760,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9546349-8614503,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9546349-8705854,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9546349-8755489,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9546349-8789455,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9546349-8830658,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9546349-8837617,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9546349-8878479,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9546349-8922407,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9546349-8938131,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9546349-8938132,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9546349-8938133,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9546349-8952521,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9546349-8965093,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9546349-9007091,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9546349-9019820,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9546349-9055862,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9546349-9106355,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9546349-9115271,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9546349-9124797,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9546349-9124799,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9546349-9173929,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9546349-9182794,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9546349-9185547,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9546349-9189035,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9546349-9223340,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9546349-9243602,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9546349-9250173,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9546349-9291942
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
AIM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Apr
|
|
pubmed:issn |
0002-9440
|
|
pubmed:author |
|
|
pubmed:issnType |
Print
|
|
pubmed:volume |
152
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
889-95
|
|
pubmed:dateRevised |
2009-11-18
|
|
pubmed:meshHeading |
pubmed-meshheading:9546349-Adult,
pubmed-meshheading:9546349-Aged,
pubmed-meshheading:9546349-Humans,
pubmed-meshheading:9546349-Immunohistochemistry,
pubmed-meshheading:9546349-Membrane Proteins,
pubmed-meshheading:9546349-Microscopy, Immunoelectron,
pubmed-meshheading:9546349-Middle Aged,
pubmed-meshheading:9546349-Muscle Fibers, Skeletal,
pubmed-meshheading:9546349-Myositis, Inclusion Body,
pubmed-meshheading:9546349-Presenilin-1
|
|
pubmed:year |
1998
|
|
pubmed:articleTitle |
Light and electron microscopic immunolocalization of presenilin 1 in abnormal muscle fibers of patients with sporadic inclusion-body myositis and autosomal-recessive inclusion-body myopathy.
|
|
pubmed:affiliation |
USC Neuromuscular Center, Los Angeles, California 90017-1912, USA.
|
|
pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
|
