Advances in amyloidosis.
Major advances of the past year in the amyloidoses include a better understanding of the polymorphism of the acute-phase reactant serum amyloid A protein and the appearance of a new mouse model for primary amyloidosis. The list of single point mutations in transthyretin in different families with slightly varied clinical manifestations of the disease continues to grow. Gelsolin, with its asparagine 187 mutation, was found to cause amyloidosis beyond the borders of Finland, where it has been extensively evaluated. The incredible range of osteoarticular lesions due to beta 2-microglobulin in hemodialysis amyloidosis continues to expand and includes severe manifestations of spondyloarthropathy. The greatest number of papers in the amyloid literature have involved amyloid beta protein, amyloid beta protein precursor associated with Alzheimer's disease, and prion protein associated with the spongiform encephalopathies. The widespread systemic involvement of amyloidosis has led to the appearance of a host of manifestations, some common and some rare. Treatment advances focus on the use of liver transplantation in familial amyloid polyneuropathy to remove the source of mutant protein synthesis.
Cohen
A S
AS
Boston University School of Medicine, Massachusetts.
Jones
L A
LA
D000686:Amyloidosis / Q000145:classification / Q000175:diagnosis / Q000188:drug therapy; D006801:Humans