Amyloid protein in familial amyloidosis (Finnish type) is homologous to gelsolin, an actin-binding protein.
Familial amyloidosis, Finnish type, is clinically characterized by cranial neuropathy and lattice corneal dystrophy. It is an autosomal dominant form of systemic amyloidosis with small deposits of congophilic material occurring in most tissues, particularly in association with blood vessel walls and basement membranes. Amyloid fibrils were extracted from the kidney of patient VUO, and rabbit antiserum raised against the 12 kDa purified amyloid subunit displayed strong immunohistochemical reactivity with the amyloid deposits. The amino terminal sequence of this 12 kDa amyloid protein (ATEVPVSWESFNNGD) showed homology with gelsolin (or actin depolymerizing factor), a 93 kDa plasma protein. The amyloid peptide is a degradation product, starting at position 173, of the gelsolin molecule.
Haltia
M
M
Department of Pathology, New York University Medical Center, New York 10016.
Prelli
F
F
Ghiso
J
J
Kiuru
S
S
Somer
H
H
Palo
J
J
Frangione
B
B
D000199:Actins / Q000378:metabolism; D000595:Amino Acid Sequence; D000682:Amyloid / Q000235:genetics* / Q000302:isolation & purification; D000686:Amyloidosis / Q000235:genetics* / Q000378:metabolism; D002135:Calcium-Binding Proteins / Q000235:genetics*; D002850:Chromatography, Gel; D004591:Electrophoresis, Polyacrylamide Gel; D005387:Finland; D018260:Gelsolin; D006801:Humans; D015151:Immunoblotting; D007668:Kidney / Q000032:analysis; D046911:Macromolecular Substances; D008840:Microfilament Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D008970:Molecular Weight; D012689:Sequence Homology, Nucleic Acid
D000199:Actins; D000682:Amyloid; D002135:Calcium-Binding Proteins; D018260:Gelsolin; D046911:Macromolecular Substances; D008840:Microfilament Proteins