Alzheimer's Disease Amyloid-β Links Lens and Brain Pathology in Down Syndrome

• Published in: PloS one Vol. 5; no. 5; p. e10659
• Main Authors: Moncaster, Juliet A., Pineda, Roberto, Moir, Robert D., Lu, Suqian, Burton, Mark A., Ghosh, Joy G., Ericsson, Maria, Soscia, Stephanie J., Mocofanescu, Anca, Folkerth, Rebecca D., Robb, Richard M., Kuszak, Jer R., Clark, John I., Tanzi, Rudolph E., Hunter, David G., Goldstein, Lee E.
• Format: Journal Article
• Language: English
• Published: United States Public Library of Science 20.05.2010; Public Library of Science (PLoS)
• Subjects: Accumulation; Adolescent; Adult; Age; Aged; Aged, 80 and over; Aging; Aging - metabolism; Aging - pathology; Alzheimer Disease - metabolism; Alzheimer Disease - pathology; Alzheimer's disease; Alzheimers disease; Amino Acid Sequence; Amyloid beta-Peptides - chemistry; Amyloid beta-Peptides - metabolism; Amyloid precursor protein; Brain; Brain - pathology; Brain - ultrastructure; Cataract - pathology; Cataracts; Child; Child, Preschool; Children & youth; Chromosome 21; Cognitive ability; Complications; Dementia; Down syndrome; Down Syndrome - metabolism; Down Syndrome - pathology; Down's syndrome; Enzyme-linked immunosorbent assay; Enzymes; Etiology; Eye Proteins - chemistry; Eye Proteins - metabolism; Female; Gene expression; Genetics; Genotype & phenotype; Humans; Hypotheses; Incubation; Intellectual disabilities; Laboratories; Lens, Crystalline - pathology; Lens, Crystalline - ultrastructure; Lenses; Light; Light scattering; Male; Medical schools; Middle Aged; Molecular Sequence Data; Neurodegenerative diseases; Neurological Disorders/Alzheimer Disease; Neurological Disorders/Cognitive Neurology and Dementia; Neurology; Neurosciences; Ophthalmology/Cataracts and Other Lens Disorders; Pathogenesis; Pathology; Pathology/Molecular Pathology; Peptides; Phenotypes; Protein interaction; Protein Structure, Quaternary; Proteins; Scattering, Radiation; Surgery; Trisomy; Womens health; Young Adult; United States > US; Massachusetts

Down syndrome (DS, trisomy 21) is the most common chromosomal disorder and the leading genetic cause of intellectual disability in humans. In DS, triplication of chromosome 21 invariably includes the APP gene (21q21) encoding the Alzheimer's disease (AD) amyloid precursor protein (APP). Triplic...