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.


Relevant publications

Lochmüller, H, Ramirez, AN, Kakkis, E. Disease monitoring programs of rare genetic diseases: transparent data sharing between academic and commercial stakeholders. Orphanet J Rare Dis. 2021.16 (1)141 PMID:33743771

Lochmüller, H, Behin, A, Tournev, I, Tarnopolsky, M, Horváth, R, Pogoryelova, O et al.. Results from a 3-year Non-interventional, Observational Disease Monitoring Program in Adults with GNE Myopathy. J Neuromuscul Dis. 2021.8 (2)225-234 PMID:33459658

Lochmüller, H, Behin, A, Caraco, Y, Lau, H, Mirabella, M, Tournev, I et al.. A phase 3 randomized study evaluating sialic acid extended-release for GNE myopathy. Neurology. 2019.92 (18)e2109-e2117 PMID:31036580

Pogoryelova, O, Urtizberea, JA, Argov, Z, Nishino, I, Lochmüller, H, ENMC workshop study group et al.. 237th ENMC International Workshop: GNE myopathy - current and future research Hoofddorp, The Netherlands, 14-16 September 2018. Neuromuscul Disord. 2019.29 (5)401-410 PMID:30956020

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

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