NCAM is hyposialylated in hereditary inclusion body myopathy due to GNE mutations.
The authors found that the neural cell adhesion molecule (NCAM) is hyposialylated in hereditary inclusion body myopathy (HIBM) muscle, as suggested by its decreased molecular weight by Western blot. This abnormality represented the only pathologic feature differentiating HIBM due to GNE mutations from other myopathies with similar clinical and pathologic characteristics. If further confirmed in larger series of patients, this may be a useful diagnostic marker of GNE-related HIBM.
Department of Neuroscience, Catholic University, Rome, Italy.
E
E
Ricci
A
A
Broccolini
T
T
Gidaro
R
R
Morosetti
C
C
Gliubizzi
R
R
Frusciante
G M
GM
Di Lella
P A
PA
Tonali
M
M
Mirabella
D000328:Adult; D017668:Age of Onset; D006031:Glycosylation; D006801:Humans; D007150:Immunohistochemistry; D008279:Magnetic Resonance Imaging; D009097:Multienzyme Complexes / Q000235:genetics*; D018482:Muscle, Skeletal / Q000473:pathology; D009154:Mutation; D018979:Myositis, Inclusion Body / Q000235:genetics* / Q000473:pathology; D019006:Neural Cell Adhesion Molecules / Q000235:genetics*
D009097:Multienzyme Complexes; D019006:Neural Cell Adhesion Molecules; C482901:UDP-N-acetylglucosamine 2-epimerase - N-acetylmannosamine kinase