Neuromuscular Disorders
The aim of the research group is to elucidate the molecular biological causes and pathogenetic mechanisms of hereditary neuromuscular diseases, especially titinopathies, other distal myopathies and progressive muscular dystrophies.
Muscle diseases caused by titin mutations, titinopathies, are a major cornerstone of the group's research, with new published results annually through extensive international collaboration, especially regarding prenatal severe forms of disease, fatal and with arthrogryposis.
The group has, among other things, published new findings on Finland's most common muscle disease, tibial muscular dystrophy, and further developed criteria for classifying TTN variants in myopathies, and developed new models for titinopathies.
Mouse and fish models for titinopathies and other musculoskeletal disorders are made in collaboration with international research groups, including from Italy, and the projects have also received EU and other European and international funding. A cell model for interchangeable C-terminus for different TTN mutations has been constructed, as well as a tissue-like myoblast hydrogel for analysis of the effects of different mutations, which also enables direct therapy trials.
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Adminstrative Group Leader
Peter Hackman, Docent
Post-doctoral Researchers
Per Harald Jonson, PhD
Jaakko Sarparanta, PhD
Anna Vihola, Docent
Mridul Johari, PhD
Viviana Cetrangolo, PhD
Doctoral Researcher
Milla Laarne, MSc
Bioinformaticians
Ali Oghabian, PhD
Meharji Arumilli, PhD
Student
Anna Vainio
Staff
Helena Luque, MSc, Laboratory Coordinator
Merja Soininen, Laboratory Assistant
Teemu Turku, MSc, Laboratory Coordinator
Tibial muscular dystrophy (TMD) is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal muscle protein titin.
Hackman P, Vihola A, Haravuori H, Marchand S, Saraparanta J, de Seze J, Peltonen L, Richard I, Udd B. American Journal of Human Genetics. 2002.
Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy.
Sarparanta J, Jonson PH, Golzio C, Sandell S, Luque H, Screen M, McDonald K, Stajich JM, Mahjneh I, Vihola A, Raheem O, Penttilä S, Lehtinen S, Huovinen S, Palmio J, Tasca G, Ricci E, Hackman P, Hauser M, Katsanis N, Udd B. Nature Genetics. 2012.
Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1.
Hackman P, Sarparanta J, Lehtinen S, Vihola A, Evilä A, Jonson H, Luque H, Kere J, Screen M, Chinnery PF, Åhlberg G, Edström L, Udd B. Annals of Neurology. 2013.
Targeted next-generation sequencing assay for detection of mutations in primary myopathies.
Evilä A, Arumilli M, Udd B, Hackman P. Neuromuscular Disorders. 2016.
The complexity of titin splicing pattern in human adult skeletal muscles.
Savarese M, Jonson PH, Huovinen S, Paulin L, Auvinen P, Udd B, Hackman P. Skeletal muscle. 2018.
Improving Copy Number Variant Detection from Sequencing Data with a Combination of Programs and a Predictive Model.
Välipakka S, Savarese M, Sagath L, Arumilli M, Giugliano T, Udd B, Hackman P. Journal of Molecular Diagnostics. 2020.
Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions.
Johari M, Sarparanta J, Vihola A, Jonson PH, Savarese M, Jokela M, Torella A, Piluso G, Said E, Vella N, Cauchi M, Magot A, Magri F, Mauri E, Kornblum C, Reimann J, Stojkovic T, Romero NB, Luque H, Huovinen S, Lahermo P, Donner K, Comi GP, Nigro V, Hackman P, Udd B. Acta Neuropathologica. 2021.
Dominant distal myopathy MPD3 caused by a deletion in the HNRNPA1 gene.
Hackman P, Rusanen S, Johari M, Vihola A, Jonson PH, Sarparanta J, Donner K, Lahermo P, Koivunen S, Luque H, Soininen M, Mahjneh I, Auranen M, Arumilli M, Savarese M, Udd B. Neurology Genetics. 2021.
Out-of-frame mutations in ACTN2 last exon cause a dominant distal myopathy with facial weakness.
Savarese M, Vihola A, Jokela M, Huovinen S, Gerevini S, Torella A, Johari M, Scarlato M, Jonson PH, Onore M, Hackman P, Gautel M, Nigro V, Previtali S, Udd B. Neurology Genetics. 2021.
Adult-onset dominant muscular dystrophy in Greek families caused by Annexin A11.
Johari M, Papadimas G, Papadopoulos C, Xirou S, Kanavaki A, Chrysanthou-Piterou M, Rusanen S, Savarese M, Hackman P, Udd B. Annals of Clinical and Translational Neurology. 2022.
The Neuromuscular diagnostic Unit at Tampere University Hospital (TAYS): Johanna Palmio MD PhD, Sini Penttilä MSc, Tiina Suominen, PhD, Sara Lehtinen, MSc, Sanna Huovinen MD
dr. Isabelle Richard, Généthon, Evry, France
prof. Ana Ferreiro, Paris, France
prof. Mathias Gautel Kings College London, England,
doc. Carina Wallgren-Pettersson, Folkhälsan Research Center
doc. Katarina Pelin, Faculty of bioscience, University of Helsinki
prof. Ralf Krahe, Univ. of Texas, Houston, USA;
prof. Nigel Laing, Univ. of Western Australia, Perth, Australia
MD Giorgio Tasca, Catholic University of Rome, Italy
doc. Petri Auvinen, Institute of Biotechnology, University of Helsinki
Folkhälsan Research Foundation
Association Française contre les Myopathies (AFM)
Finska Läkaresällskapet (“Medical Society of Finland”)
Medicinska Understödsföreningen Liv och Hälsa (“Life and Health Medical Fund”)
Sigrid Jusélius Foundation
Academy of Finland
VTR( EVO) Governmental Grants
Magnus Ehrnrooth Foundation
Jane and Aatos Erkko Foundation
