The research group on nemaline myopathy and related disorders

Principal Investigator

Carina Wallgren-Pettersson, MD, Doctor of Medical Sciences
Department of Medical Genetics
Tel. +358 9 315 5521
carina.wallgren (at) helsinki.fi

Group Members

Katarina Pelin, Co-PI, PhD
Mubashir Hanif, PhD, Postdoctoral Scientist
Vilma-Lotta Lehtokari, PhD, Postdoctoral Scientist
Minttu Marttila, MSc, PhD Student
Kirsi Kiiski, MSc, PhD Student
Jenni Laitila, MSc, PhD Student
Marilotta Turunen, Laboratory Nurse and Research Assistant
Liina Laari, MSc Student
Pauliina Vornanen, MSc Student

Affiliated experts

Mikaela Grönholm, PhD
Kati Donner, PhD

Aims

The aims of the research are to elucidate the clinical picture, the molecular causes and the pathogenetic mechanisms of hereditary disorders of the muscle sarcomere, especially nemaline myopathy and similar neuromuscular disorders.

The group is working towards practically applicable diagnostic methods based on mutation detection and studies of protein expression. The group is involved in multidisciplinary international collaboration on nemaline myopathy within the International Consortium on Nemaline Myopathy, coordinated by Dr. Wallgren-Pettersson and Prof. Nigel G. Laing from Perth, Australia. The international database on nemaline myopathy has been established in Helsinki.

Another research interest within the group is myotubular (centronuclear) myopathy. The PI is the Finnish representative on the Governing Board of the new EU-funded Network of Excellence, TREAT-NMD, aiming towards harmonisation of diagnostics and care for patients with neuromuscular disorders.

Some of our ongoing projects

• Mutation detection in the nebulin gene and candidate genes for nemaline myopathy
• Genotype-phenotype correlations
• Identification of the eighth possible gene for nemaline myopathy
• Developing diagnostic methods
• Pathogenetic studies of nemaline myopathy caused by mutations in the giant nebulin gene
• Isoforms of nebulin in normal and diseased muscle and non-muscle tissue
• Pathogenetic studies of nemaline myopathy caused by mutations in the gene for ß-tropomyosin

Five main publications

• Pelin K, Hilpelä P, Sewry C , Akkari PA, Wilton SD, Wattanasirichaigoon D, Bang M-L, Centner T, Hanefeld F, Odent S, Fardeau M, Urtizberea JA, Muntoni F, Dubowitz V, Beggs AH, Laing NG, Labeit S, de la Chapelle A, Wallgren-Pettersson C. Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Proc. Natl. Acad. Sci. USA 1999;96:2305-2310.
• Donner K, Sandbacka M, Lehtokari V-L, Wallgren-Pettersson C, Pelin K: Complete genomic structure of the human nebulin gene and identification of alternatively spliced isoforms. Eur. J. Hum. Genet. 2004;12:744-51.
• Lehtokari V-L, Ceuterick - de Groote C, de Jonghe P, Marttila M, Laing NG, Pelin K, Wallgren-Pettersson C: Cap disease caused by heterozygous deletion of the beta-tropomyosin gene TPM2. Neuromuscul. Disord. 2007;17:433-442.
• Wallgren-Pettersson C, Lehtokari V-L, Kalimo H, Paetau A, Hackman P, Sewry C, Pelin K, Udd B: Autosomal recessive distal myopathy caused by missense mutations in the nebulin gene. Brain 2007;130;1465-1476.
• Romero NB*, Lehtokari V-L*, Quijano-Roy S, Barois A, Claeys KG, Carlier RY, Pellegrini N, Orlikowski D, Monnier N, Laing NG, Fardeau M, Pelin K, Wallgren-Pettersson C. Core-rod myopathy caused by mutations in the nebulin gene. Neurology 2009;73:1159-1162. * these authors contributed equally to the work.