Neuromuscular junction and animal models

Lochmüller Lab

Hanns Lochmüller and team - research and clinical activities

Other inherited neuromuscular conditions

Our research interests often span diseases and encompass a wide range of inherited neuromuscular conditions. Conditions such as DMD and myotonic dystrophy affect hundreds of individuals in Canada, but there are at least another 400 genetically distinct neuromuscular diseases that affect smaller numbers of people. These include mitochondrial myopathies, myofibrillar neuropathies, congenital muscular dystrophies, limb-girdle muscular dystrophies, inherited neuropathies, metabolic myopathies and other complex neurological conditions. Most of these conditions do not have effective therapies, and many families lack a definite molecular diagnosis.

Hanns sees patients with all forms of neuromuscular disease in clinic. Our team’s research into those other less frequent neuromuscular diseases ranges from gene discovery and the elucidation of the underlying pathogenesis to the development of new therapeutic approaches.

Image of stained muscle sections using different staining techniques

Relevant publications

Kohlschmidt, N, Elbracht, M, Czech, A, Häusler, M, Phan, V, Töpf, A et al.. Molecular pathophysiology of human MICU1-deficiency. Neuropathol Appl Neurobiol. 2021. PMID:33428302

Vogt, G, El Choubassi, N, Herczegfalvi, Á, Kölbel, H, Lekaj, A, Schara, U et al.. Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa. J Inherit Metab Dis. 2020. PMID:33320377

Hathazi, D, Griffin, H, Jennings, MJ, Giunta, M, Powell, C, Pearce, SF et al.. Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency. EMBO J. 2020.39 (23)e105364 PMID:33128823

McMacken, G, Whittaker, RG, Charlton, R, Barresi, R, Lochmüller, H, Horvath, R et al.. Inherited neuropathies with predominant upper limb involvement: genetic heterogeneity and overlapping pathologies. Eur J Neurol. 2021.28 (1)297-304 PMID:32909314

Hedberg-Oldfors, C, Meyer, R, Nolte, K, Abdul Rahim, Y, Lindberg, C, Karason, K et al.. Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles. Brain. 2020.143 (8)2406-2420 PMID:32779703

Nilipour, Y, Fatehi, F, Sanatinia, S, Bradshaw, A, Duff, J, Lochmüller, H et al.. Multiple acyl-coenzyme A dehydrogenase deficiency shows a possible founder effect and is the most frequent cause of lipid storage myopathy in Iran. J Neurol Sci. 2020.411 116707 PMID:32007756

Cipriani, S, Phan, V, Médard, JJ, Horvath, R, Lochmüller, H, Chrast, R et al.. Neuromuscular Junction Changes in a Mouse Model of Charcot-Marie-Tooth Disease Type 4C. Int J Mol Sci. 2018.19 (12) PMID:30562927

Wiessner, M, Roos, A, Munn, CJ, Viswanathan, R, Whyte, T, Cox, D et al.. Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment. Am J Hum Genet. 2017.100 (3)523-536 PMID:28190456

Herrmann, DN, Horvath, R, Sowden, JE, Gonzalez, M, Gonzales, M, Sanchez-Mejias, A et al.. Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathy. Am J Hum Genet. 2014.95 (3)332-9 PMID:25192047

Gempel, K, Topaloglu, H, Talim, B, Schneiderat, P, Schoser, BG, Hans, VH et al.. The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene. Brain. 2007.130 (Pt 8)2037-44 PMID:17412732