The biggest protein in nature, titin, is crucial for muscle fiber formation, structure and function. Titin mutations cause a wide range of skeletal muscle diseases all from fetal lethality to adult onset muscle weakness and is a major cause of genetic heart disease. The founder mutation FINmaj causes Tibial muscular dystrophy in more than 1000 patients - the most common single muscle disease in Finland. Another titinopathy, HMERF disease with respiratory failure, is caused by many different mutations all over the world with hundreds of families known. Our project aims at clarifying the detailed molecular mechanisms that lead to progressive loss of muscle tissue in these diseases by studying muscle cell and medaka fish models of the mutations. The models will be treated genetic interventions and by agents to find methods which rescue them from the harmful effects of the mutations. All efforts in order to find treatment options possible to use in human patients.

2022

2026