Maintenance of muscle mass, fiber size, and contractile function in mice lacking the Z-disc protein myotilin
2009 (English)In: Uppsala Journal of Medical Sciences, ISSN 0300-9734, E-ISSN 2000-1967, Vol. 114, no 4, 235-241 p.Article in journal (Refereed) Published
BACKGROUND: Myofibrillar myopathies constitute a rare group of congenital neuromuscular disorders, frequently associated with mutations in Z-disc proteins such as myotilin. Myotilin location and interactions with other Z-disc proteins are clearly defined, but its role in the regulation of muscle structure and function remains unknown. The present study aims at investigating this specific role of myotilin. METHODS: Skeletal and cardiac muscles were collected from adult mice with a targeted deletion of myotilin (myo(-/-)) and wild-type animals (myo(+/+)). RESULTS AND CONCLUSION: Similar skeletal and cardiac muscle weights were observed in myo(-/-) and myo(+/+) mice. At the muscle cell level, the size and force production of single membrane permeabilized fibers were identical between myo(-/-) and myo(+/+) rodents. Thus, myotilin does not have a significant influence on muscle mass, muscle fiber size, or regulation of muscle contraction. Alternatively, compensatory over-expressions of other elements including proteins from the same subfamily, or Z-disc proteins such as telethonin, or intermediate filaments may compensate for the lack of myotilin.
Place, publisher, year, edition, pages
2009. Vol. 114, no 4, 235-241 p.
Muscle, myotilin, single membrane permeabilized muscle fiber, telethonin
Research subject Clinical Neurophysiology
IdentifiersURN: urn:nbn:se:uu:diva-120666DOI: 10.3109/03009730903276399ISI: 000273527100006PubMedID: 19878039OAI: oai:DiVA.org:uu-120666DiVA: diva2:303799