Group Udd

Neuromuscular Disorders

The objective is to clarify the molecular pathology of known and not yet described human inherited neuromuscular disorders. After gene identification we continue with functional analyses. The identification of the underlying cause may eventually lead to prevention and treatment of the disorders.

Our achievements include primary identification of the genes underlying various neuromuscular disorders. These include tibial muscular dystrophy (TMD/LGMD2J, Udd myopathy), HMERF and other titinopathies caused by mutations in the TTN gene coding for the giant muscle protein titin (TTN). We also identified the causative TIA1 mutation in Welander distal myopathy. The research group has published genetic causes of especially distal myopathies, such as mutations in the J-domain of DNAJB6, CHCHD10, HSPB8 with a phenotype of distal myopathy and motor neuropathy, an X-linked myopathy SMPX and others. The titinopathies, are one of the cornerstones of research with several newly published findings through extensive international collaborations. Among others, we have published new splice variants that are associated with the recessively inherited muscle disease arthrogryposis multiplex congenita. The group has further developed criteria for the classification of TTN variants in myopathies. We have also further investigated the use of methods to sequence individual long RNA molecules to detect new splice variants in TTN. New analytical methods for detecting so-called CNV (copy number variations) mutations have been further developed and published. Our capacity to analyze the huge TTN on genomic, transcript and protein level is requested by research groups and clinicians around the world. We are conducting functional studies with the aim of understanding why some muscles are selectively affected in the disorders. The knowledge generated have led to accurate diagnostics, and may be used for therapeutic possibilities in the future.

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Post-Doctoral Scientists

Per Harald Jonson, PhD

Jaakko Sarparanta, PhD

Marco Savarese, PhD

Anna Vihola, PhD

Graduate Students

Meharji Arumilli, MSc (part time)

Mridul Johari, MSc

Undergraduate Students

Linda Forss (BSc)


Anna Vainio (BSc)


Helena Luque, BSc, Research Assistant

Merja Soininen, Laboratory Assistant

Hackman P., Vihola A., Haravuori H., Marchand S., Saraparanta J., de Seze J., Peltonen L., Richard I. and Udd B. Tibial muscular dystrophy (TMD) is a titinopathy - caused by mutations in TTN, the gene encoding the giant skeletal muscle protein titin. Am J Hum Genet 2002. 71:492-500.

Lange S., Xiang F., Yakovenko A,, Vihola A., Hackman P., Rostkova E., Kristensen J., Brandmeier B., Franzen G., Hedberg B., Gunnarsson LG, Hughes SM, Marchand S, Sejersen T, Richard I, Edström L, Ehler E, Udd B, Gautel M. (2005). The Kinase Domain of Titin Controls Muscle Gene Expression and Protein Turnover. Science 2005, 10;308(5728):1599-603.

Hackman P, Marchand S, Sarparanta J, Vihola A, Pénisson-Besnier I, Eymard B, Pardal-Fernández JM, Hammouda EH, Richard I, Illa I, and Udd B. Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD). Neuromuscular Disorders 2008 18(12):922-8.

Raheem O, Olufemi S, Bachinski L, Vihola A, Sirito M, Holmlund-Hampf J, Haapasalo H, Li Y, Udd B and Krahe R. Mutant (CCTG)n expansion causes abnormal expression of ZNF9 in myotonic dystrophy type 2 (DM2). Am J Pathol 2010; 177:3025-36.

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. Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy. Nat Genet. 2012 44(4):450-5.

Hackman, P., Sarparanta, J., Lehtinen, S., Vihola, A., Evilä, A., Jonson, H., Luque H., Kere, J., Screen, M., Chinnery, P.F., Åhlberg, G., Edström, L., Udd, B. Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1. Annals of Neurology 2013. 73, 4, p. 500-509

Evilä A, Vihola A, Sarparanta J, Raheem O, Palmio J, Sandell S, Eymard B, Illa I, Rojas-Garcia R, Hankiewicz K, Negrão L, Löppönen T, Nokelainen P, Kärppä M, Penttilä S, Screen M, Suominen T, Richard I, Hackman P, Udd B. Atypical phenotypes in titinopathies explained by second titin mutations. Ann Neurol. 2014 75(2):230-40.

Charton K, Sarparanta J, Vihola A, Milic A, Jonson PH, Suel L, Luque H, Boumela I, Richard I, Udd B. CAPN3-mediated processing of C-terminal titin replaced by pathological cleavage in titinopathy. Hum Mol Genet. 2015 Jul 1;24(13):3718-31

Huovinen S, Penttilä S, Somervuo P, Keto J, Auvinen P, Vihola A, Huovinen S, Pelin K, Raheem O, Salenius J, Suominen T, Hackman P, Udd B. Differential Isoform Expression and Selective Muscle Involvement in Muscular Dystrophies. Am J Pathol. 2015 Oct;185(10):2833-42.

Evilä A, Arumilli M, Udd B, Hackman P. Targeted next-generation sequencing assay for detection of mutations in primary myopathies. Neuromuscul Disord. 2016 Jan;26(1):7-15

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

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

    • Bjarne Udd

      MD, PhD, Professor, Group Leader

    • Tel:
      +358 29 412 5741

    • Contact
    • Peter Hackman

      PhD, Docent, Adminstrative Group Leader

    • Tel:
      +358 29 412 5069

    • Contact