GNE myopathy

GNE myopathy is an autosomal recessive muscle disease caused by mutations in the GNE gene which codes for a protein responsible for the enzymatic activity of UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase. Clinical symptoms usually start around the third decade of life with distal muscle weakness, foot drop and difficulty walking. The disease gradually progresses to affect other muscles of the arm and leg and affected individuals typically start using a wheelchair one or two decades later.

Read a review of clinical and research strategies in GNE here.

Our GNE-related preclinical research focuses on the elucidation of pathophysiological mechanisms leading to muscle fibre vulnerability utilizing patient-derived material including muscle biopsies as well as cultured cells. We also work on the identification and validation of biomarkers for GNE myopathy. In the clinical research area, Hanns has been principal investigator for several natural history and treatment studies in collaboration with the pharma company Ultragenyx Pharmaceutical Inc.

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Relevant publications

Pogoryelova, O, Wilson, IJ, Mansbach, H, Argov, Z, Nishino, I, Lochmüller, H et al.. GNE genotype explains 20% of phenotypic variability in GNE myopathy. Neurol Genet. 2019.5 (1)e308 PMID:30842975

Alrohaif, H, Pogoryelova, O, Al-Ajmi, A, Aljeryan, LA, Alrashidi, NH, Alefasi, SA et al.. GNE myopathy in the bedouin population of Kuwait: Genetics, prevalence, and clinical description. Muscle Nerve. 2018.58 (5)700-707 PMID:30192030

Pogoryelova, O, González Coraspe, JA, Nikolenko, N, Lochmüller, H, Roos, A. GNE myopathy: from clinics and genetics to pathology and research strategies. Orphanet J Rare Dis. 2018.13 (1)70 PMID:29720219

Pogoryelova, O, Cammish, P, Mansbach, H, Argov, Z, Nishino, I, Skrinar, A et al.. Phenotypic stratification and genotype-phenotype correlation in a heterogeneous, international cohort of GNE myopathy patients: First report from the GNE myopathy Disease Monitoring Program, registry portion. Neuromuscul. Disord. 2018.28 (2)158-168 PMID:29305133

Preethish-Kumar, V, Pogoryelova, O, Polavarapu, K, Gayathri, N, Seena, V, Hudson, J et al.. Beevor's sign: a potential clinical marker for GNE myopathy. Eur. J. Neurol. 2016.23 (8)e46-8 PMID:27431025

Chamova, T, Guergueltcheva, V, Gospodinova, M, Krause, S, Cirak, S, Kaprelyan, A et al.. GNE myopathy in Roma patients homozygous for the p.I618T founder mutation. Neuromuscul. Disord. 2015.25 (9)713-8 PMID:26231298

Chaouch, A, Brennan, KM, Hudson, J, Longman, C, McConville, J, Morrison, PJ et al.. Two recurrent mutations are associated with GNE myopathy in the North of Britain. J. Neurol. Neurosurg. Psychiatry. 2014.85 (12)1359-65 PMID:24695763

Stober, A, Aleo, A, Kuhl, V, Bornemann, A, Walter, MC, Lochmüller, H et al.. Novel missense mutation p.A310P in the GNE gene in autosomal-recessive hereditary inclusion-body myopathy/distal myopathy with rimmed vacuoles in an Italian family. Neuromuscul. Disord. 2010.20 (5)335-6 PMID:20346669

Krause, S, Hinderlich, S, Amsili, S, Horstkorte, R, Wiendl, H, Argov, Z et al.. Localization of UDP-GlcNAc 2-epimerase/ManAc kinase (GNE) in the Golgi complex and the nucleus of mammalian cells. Exp. Cell Res. 2005.304 (2)365-79 PMID:15748884