Mutation of the gene for the human lysosomal serine protease cathepsin G is not the cause of aberrant APP processing in familial Alzheimer disease.
Recent genetic linkage studies have implicated a gene on chromosome 14 in the pathogenesis of FAD. The identity of this gene remains unknown but it has been speculated that it may be involved in the cellular processing of the amyloid precursor protein (APP). We have analyzed the nucleotide sequence of the entire open reading frame of the cathepsin G gene located on chromosome 14q. No mutations were observed, suggesting that defects in this lysosomal protease are not responsible for aberrant accumulation of proteolytic products of APP in FAD brain tissue.
Wong
L
L
Department of Medicine, University of Toronto, Ont., Canada.
Liang
Y
Y
Jiang
L
L
Tsuda
T
T
Fong
Q
Q
Galway
G
G
Alexandrova
N
N
Rogaeva
E
E
Lukiw
W
W
Smith
J
J
D000544:Alzheimer Disease / Q000201:enzymology / Q000235:genetics*; D016564:Amyloid beta-Protein Precursor / Q000378:metabolism*; D001483:Base Sequence; D056649:Cathepsin G; D002403:Cathepsins / Q000235:genetics* / Q000502:physiology; D002883:Chromosomes, Human, Pair 14; D008040:Genetic Linkage; D006801:Humans; D008247:Lysosomes / Q000201:enzymology; D008969:Molecular Sequence Data; D009154:Mutation; D015345:Oligonucleotide Probes; D016366:Open Reading Frames; D011499:Protein Processing, Post-Translational; D012697:Serine Endopeptidases
D016564:Amyloid beta-Protein Precursor; D015345:Oligonucleotide Probes; D002403:Cathepsins; D012697:Serine Endopeptidases; C534094:CTSG protein, human; D056649:Cathepsin G