Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0027121 (
myositis
)
4,538
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
In the beta/A4 protein of Alzheimer's disease, on chromosome 21, three mutations at the same locus have been described (Val 717 Ile, Val 171 Phe, and Val 171 Gly). The heterogeneity of the disease was indicated in individuals with mutations involving chromosomes 19 and 14 as well. beta Protein has also been demonstrated in the rimmed vacuoles of inclusion-body
myositis
. Therapeutic advances include orthotopic liver transplantation to remove the site of synthesis of the mutant
transthyretin
molecule. Clinical manifestations of the various forms of amyloidosis involve virtually every system in the body; the breadth of the curious series of proteins called amyloid has been extended considerably in the past year.
...
PMID:Clinical aspects of amyloidosis, including related proteins and central nervous system amyloid. 791 35
Cultured muscle fibers (CMF) from a patient with inclusion-body
myositis
(IBM) and cardiac amyloidosis associated with the
transthyretin
(
TTR
) Val122Ile mutation contained aspects of the IBM phenotype: vacuolation, congophilic inclusions, and clusters of immunocolocalizing amyloid beta-peptide (Abeta) and
TTR
accumulations. These abnormalities are never present in normal human CMF. These perturbations were greatly increased after Abeta precursor protein gene transfer. The
TTR
mutation may be a genetic predisposition factor for the patient's IBM.
...
PMID:Transthyretin Val122Ile, accumulated Abeta, and inclusion-body myositis aspects in cultured muscle. 1287 14
