Analysis of NCAM helps identify unusual phenotypes of hereditary inclusion-body myopathy

Neurology
Aldobrando BroccoliniMassimiliano Mirabella

Abstract

Hereditary inclusion-body myopathy or distal myopathy with rimmed vacuoles (h-IBM/DMRV) is due to mutations of the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene, which codes for an enzyme of the sialic acid biosynthetic pathway. By Western blot (WB) analysis, we have previously shown that in h-IBM/DMRV muscle, the neural cell adhesion molecule (NCAM) has increased electrophoretic mobility that reflects reduced sialylation of the protein. To identify patients with h-IBM/DMRV with atypical clinical or pathologic phenotype using NCAM analysis and the possible cellular mechanism associated with the overall abnormal sialylation of NCAM observed in this disorder. WB analysis of NCAM was performed on muscle biopsies of 84 patients with an uncharacterized muscle disorder who were divided in the following 2 groups: 1) 46 patients with a proximal muscle weakness in whom the main limb-girdle muscular dystrophy syndromes had been ruled out; and 2) 38 patients with a distal distribution of weakness in whom a neurogenic affection had been excluded. Patients in whom a reduced sialylation of NCAM was suspected were studied for the presence of GNE mutations. In 3 patients, we found that NCAM had increased electrophor...Continue Reading

Citations

Aug 16, 2014·Biomarkers in Medicine·Petcharat LeoyklangMarjan Huizing
Apr 8, 2014·Acta histochemica·Mirca MariniEleonora Sgambati
Jan 11, 2012·Journal of Neurology·Giorgio TascaAldobrando Broccolini
May 16, 2015·Journal of Neuropathology and Experimental Neurology·Anna NogalskaValerie Askanas
Apr 6, 2013·Muscle & Nerve·Huaying CaiHidenao Sasaki
Aug 26, 2014·Biochimica Et Biophysica Acta·Aldobrando Broccolini, Massimiliano Mirabella
May 29, 2019·Journal of Clinical Neuromuscular Disease·Shri K MishraRobert Freundlich
Aug 8, 2020·Neurogenetics·Xiaoqing LvChuanzhu Yan
Jan 28, 2020·Journal of Neuromuscular Diseases·Hadar BenyaminiStella Mitrani-Rosenbaum
Oct 9, 2020·Journal of Muscle Research and Cell Motility·Kapila AwasthiAlok Bhattacharya

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