Details

Autor(en) / Beteiligte

• Sivakumar, K.
• Cervenáková, L.
• Dalakas, M. C.
• Leon-Monzon, M.
• Isaacson, S. H.
• Nagle, J. W.
• Vasconcelos, O.
• Goldfarb, L. G.

Titel

Exons 16 and 17 of the amyloid precursor protein gene in familial inclusion body myopathy

Ist Teil von

• Annals of neurology, 1995-08, Vol.38 (2), p.267-269

Ort / Verlag

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

Erscheinungsjahr

1995

Quelle

Wiley-Blackwell Journals

Beschreibungen/Notizen

• Accumulation of β‐amyloid protein (Aβ) 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 β‐amyloid precursor protein (βAPP) 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 βAPP metabolism or myocyte degeneration and cell membrane degradation.