Clinical aspects of amyloidosis, including related proteins and central nervous system amyloid.
In the beta/A4 protein of Alzheimer's disease, on chromosome 21, three mutations at the same locus have been described (Val 717 Ile, Val 171 Phe, and Val 171 Gly). The heterogeneity of the disease was indicated in individuals with mutations involving chromosomes 19 and 14 as well. beta Protein has also been demonstrated in the rimmed vacuoles of inclusion-body myositis. Therapeutic advances include orthotopic liver transplantation to remove the site of synthesis of the mutant transthyretin molecule. Clinical manifestations of the various forms of amyloidosis involve virtually every system in the body; the breadth of the curious series of proteins called amyloid has been extended considerably in the past year.
Cohen
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Arthritis and Amyloid Center, Boston University School of Medicine, MA 02118.
D016229:Amyloid beta-Peptides / Q000235:genetics / Q000378:metabolism; D000686:Amyloidosis / Q000175:diagnosis / Q000209:etiology* / Q000628:therapy; D000818:Animals; D006023:Glycoproteins / Q000378:metabolism; D006025:Glycosaminoglycans / Q000378:metabolism; D006801:Humans; D009928:Organ Specificity; D018620:PrPSc Proteins; D011328:Prions / Q000235:genetics; D000683:Serum Amyloid P-Component / Q000235:genetics / Q000378:metabolism
D016229:Amyloid beta-Peptides; D006023:Glycoproteins; D006025:Glycosaminoglycans; D018620:PrPSc Proteins; D011328:Prions; D000683:Serum Amyloid P-Component; C046748:amyloid enhancing factor