QBI Neuroscience seminar: Gene discovery, pathobiology, therapy and research translation in genetic muscle diseases.
Event Details
- Date:
- Wednesday, 05 May 2010
- Time:
- 12:00 pm - 1:00 pm
- Room:
- Auditorium, level-7
- UQ Location:
- Queensland Brain Institute (St Lucia)
- URL:
- http://www.waimr.uwa.edu.au/team/nlaing.html
- Event category(s):
Event Contact
- Name:
- Mr Reeza Palamoodu Nazer
- Phone:
- 66416
- Email:
- r.nazer@uq.edu.au
- Org. Unit:
- Queensland Brain Institute
Event Description
- Full Description:
- Speaker:
Professor Nigel Laing, Centre for Medical Research, University of Western Australia, and Western Australian Instittute for Medical Research, WAIMR.
Title:
Gene discovery, pathobiology, therapy and research translation in genetic muscle diseases.
Abstract:
My laboratory has been working with Australian families to find inherited disease genes since 1987. The initial major successful gene discovery project we were part of was identifying SOD1 as the first known gene for familial motor neuron disease. Amongst the other disease genes we have identified have been genes for tropomyosin, actin, and myosin, proteins that are fundamental to muscle contraction. We continue to discover novel human disease genes, with two more unpublished genes in the pipeline. We have investigated the pathobiology of several of the disease genes we have identified, notably the skeletal muscle actin and myosin diseases. The early onset distal myopathy we identified as caused by mutations in slow skeletal muscle myosin, is fascinating in the specificity with which it affects muscles. Our efforts at developing therapies have been largely targeted at the skeletal muscle actin diseases. Mutations in skeletal muscle actin generally cause severe congenital myopathies, with the majority of patients dying by one year of age [1]. We have been investigating upregulation therapy. Upregulation therapy aims to use another gene/protein to overcome the defect in the disease gene. Humans have two striated muscle actin genes, one for skeletal muscle actin and one for cardiac actin. Interestingly, cardiac actin is expressed in skeletal muscle before birth, but is normally downregulated by birth. We hypothesised that it might be possible to use cardiac actin in upregulation therapy to treat the skeletal muscle actin diseases. We have now shown that transgenically expressed cardiac actin can rescue skeletal muscle actin knockout mice [2]. The skeletal muscle actin knockout mice mimic patients with recessive skeletal muscle actin gene mutations [3]. We showed that disease severity in recessive skeletal muscle actin patients correlates inversely with the level of cardiac actin in their skeletal muscles after birth [3]. This indicates that cardiac actin can function at least partially in skeletal muscle in patients. We now have to find a way to upregulate cardiac actin in the skeletal muscle of patients. In research translation, we are working towards a national diagnostic network for neuromuscular disorders in Australia and also the introduction into Australia of newborn screening for Duchenne muscular dystrophy.
Directions to UQ
- Google Map:
-
- Directions:
- St Lucia Campus | Gatton campus.
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