期刊
AMERICAN JOURNAL OF HUMAN GENETICS
卷 88, 期 2, 页码 162-172出版社
CELL PRESS
DOI: 10.1016/j.ajhg.2011.01.008
关键词
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资金
- Association Francaise contre les Myopathies (AFM)
- Science City Newcastle
- Gebert Ruf Foundation
- Deutsche Forschungsgemeinschaft (DFG) [Ab 130/2-1]
- MRC, MRC Centre for Neuromuscular Diseases
- Myasthenia Gravis Association
- Muscular Dystrophy Campaign
- Instituto de Salud Carlos III and Fundacion para la Investigacion del Hospital Universitario La Fe [CM06/00154]
- Faculty of Medical Sciences, Newcastle University
- MRC
- Medical Research Council [G0601943, G0701521] Funding Source: researchfish
- MRC [G0701521, G0601943] Funding Source: UKRI
Neuromuscular junctions (NMJs) are synapses that transmit impulses from motor neurons to skeletal muscle fibers leading to muscle contraction. Study of hereditary disorders of neuromuscular transmission, termed congenital myasthenic syndromes (CMS), has helped elucidate fundamental processes influencing development and function of the nerve-muscle synapse. Using genetic linkage, we find 18 different biallelic mutations in the gene encoding glutamine-fructose-6-phosphate transaminase 1 (GFPT1) in 13 unrelated families with an autosomal recessive CMS. Consistent with these data, downregulation of the GFPT1 ortholog gfpt1 in zebrafish embryos altered muscle fiber morphology and impaired neuromuscular junction development. GFPT1 is the key enzyme of the hexosamine pathway yielding the amino sugar UDP-N-acetylglucosamine, an essential substrate for protein glycosylation. Our findings provide further impetus to study the glycobiology of NMJ and synapses in general.
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