Transthyretin Val122Ile, accumulated Abeta, and inclusion-body myositis aspects in cultured muscle.
basic_science · Level V
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Abstract
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.
Medical subject headings
- Amino Acid Substitution
- Amyloid
- Amyloid beta-Peptides
- Mutation, Missense
- Myositis, Inclusion Body
- Prealbumin