title: Exons 16 and 17 of the amyloid precursor protein gene in familial inclusion body myopathy.
abstract: Accumulation of beta-amyloid protein (A beta) occurs in some muscle fibers of patients with inclusion body myopathy and resembles the type of amyloid deposits seen in the affected tissues of patients with Alzheimer's disease and cerebrovascular amyloidosis. Because mutations in exons 16 and 17 of the beta-amyloid precursor protein (beta APP) gene on chromosome 21 have been identified in patients with early-onset familial Alzheimer's disease and Dutch-type cerebrovascular amyloidosis, we searched for mutations of the same region in patients with familial inclusion body myopathy. Sequencing of both alleles in 8 patients from four unrelated families did not reveal any mutations in these exons. The amyloid deposition in familial forms of inclusion body myopathy may be either due to errors in other gene loci, or it is secondary reflecting altered beta APP metabolism or myocyte degeneration and cell membrane degradation.
authors.affiliation: Neuromuscular Diseases Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.
authors.forename: K
authors.initials: K
authors.lastname: Sivakumar
authors.forename: L
authors.initials: L
authors.lastname: Cervenáková
authors.forename: M C
authors.initials: MC
authors.lastname: Dalakas
authors.forename: M
authors.initials: M
authors.lastname: Leon-Monzon
authors.forename: S H
authors.initials: SH
authors.lastname: Isaacson
authors.forename: J W
authors.initials: JW
authors.lastname: Nagle
authors.forename: O
authors.initials: O
authors.lastname: Vasconcelos
authors.forename: L G
authors.initials: LG
authors.lastname: Goldfarb
mesh_terms: D000328:Adult; D016564:Amyloid beta-Protein Precursor / Q000235:genetics*; D001483:Base Sequence; D005091:Exons; D005260:Female; D006801:Humans; D002479:Inclusion Bodies; D008969:Molecular Sequence Data; D009135:Muscular Diseases / Q000235:genetics*; D009154:Mutation
chemical_list: D016564:Amyloid beta-Protein Precursor