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 β-peptide (Aβ) and TTR accumulations. These abnormalities are never present in normal human CMF. These perturbations were greatly increased after Aβ precursor protein gene transfer. The TTR mutation may be a genetic predisposition factor for the patient's IBM.
Transthyretin Val122Ile, accumulated Aβ, and inclusion-body myositis aspects in cultured muscle
Vattemi G.
2003-01-01
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 β-peptide (Aβ) and TTR accumulations. These abnormalities are never present in normal human CMF. These perturbations were greatly increased after Aβ precursor protein gene transfer. The TTR mutation may be a genetic predisposition factor for the patient's IBM.
File in questo prodotto:
Non ci sono file associati a questo prodotto.
I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
