title: High levels of amyloid-beta protein from S182 (Glu246) familial Alzheimer's cells.
abstract: Most early-onset familial Alzheimer disease is associated with missense mutations in S182, a membrane protein on chromosome 14. We investigated amyloid-beta protein (A beta) precursor (A beta PP) metabolism in skin fibroblasts from S182 (Glu246)-affected individuals and unaffected family members. Steady-state A beta PP levels were similar among all lines as was the degree of increase in soluble A beta PP released upon stimulation of cells with either phorbol ester or serum. Among all lines studied, A beta levels were consistently detectable only in the medium of a single line of S182 (Glu246) cells, consistent with the conclusion that some S182 mutant lines may accumulate A beta in their conditioned media. Studies of cells from additional individuals and under other conditions will be required to establish this association of elevated A beta levels with S182 mutations.
authors: Department of Neurology and Neuroscience, Cornell University Medical College, New York NY 10021, USA.
authors: R N
authors: RN
authors: Martins
authors: B A
authors: BA
authors: Turner
authors: R T
authors: RT
authors: Carroll
authors: D
authors: D
authors: Sweeney
authors: K S
authors: KS
authors: Kim
authors: H M
authors: HM
authors: Wisniewski
authors: J P
authors: JP
authors: Blass
authors: G E
authors: GE
authors: Gibson
authors: S
authors: S
authors: Gandy
mesh_terms: D017668:Age of Onset; D000544:Alzheimer Disease / Q000235:genetics* / Q000473:pathology; D016564:Amyloid beta-Protein Precursor / Q000378:metabolism*; D001790:Blood Physiological Phenomena; D016022:Case-Control Studies; D002478:Cells, Cultured; D017077:Culture Media, Conditioned; D005347:Fibroblasts / Q000378:metabolism; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D015240:Phorbol 12,13-Dibutyrate / Q000494:pharmacology; D017354:Point Mutation; D053764:Presenilin-1; D012867:Skin / Q000166:cytology / Q000378:metabolism
chemical_list: D016564:Amyloid beta-Protein Precursor; D017077:Culture Media, Conditioned; D008565:Membrane Proteins; D009419:Nerve Tissue Proteins; C508853:PSEN1 protein, human; D053764:Presenilin-1; D015240:Phorbol 12,13-Dibutyrate