期刊
CURRENT MOLECULAR MEDICINE
卷 16, 期 9, 页码 779-792出版社
BENTHAM SCIENCE PUBL LTD
DOI: 10.2174/1566524016666161128113338
关键词
Gene therapy; motor neuron; neuromuscular disease; spinal muscular atrophy; survival of motor neuron; therapeutics
资金
- Canadian Institutes of Health Research (CIHR)
- Queen Elizabeth II Graduate Scholarship in Science and Technology from the Government of Ontario
- Physician Services Incorporated Foundation
- Ottawa Hospital Department of Medicine
- CIHR
- Muscular Dystrophy Association (MDA)
- Cure SMA
- Families of SMA Canada
- Multiple Sclerosis Society of Canada
- University Health Research Chair from the University of Ottawa
- National Sciences and Engineering Research Council (NSERC)
- Cancer Research Society (Canada)
Spinal muscular atrophy (SMA) is the most common genetically inherited neurodegenerative disease resulting in infant mortality. SMA is caused by genetic deletion or mutation in the survival of motor neuron 1 (SMN1) gene, which results in reduced levels of the survival of motor neuron (SMN) protein. SMN protein deficiency preferentially affects amotor neurons, leading to their degeneration and subsequent atrophy of limb and trunk muscles, progressing to death in severe forms of the disease. More recent studies have shown that SMN protein depletion is detrimental to the functioning of other tissues including skeletal muscle, heart, autonomic and enteric nervous systems, metabolic/endocrine (e.g. pancreas), lymphatic, bone and reproductive system. In this review, we summarize studies discussing SMN protein's function in various cell and tissue types and their involvement in the context of SMA disease etiology. Taken together, these studies indicate that SMA is a multi-organ disease, which suggests that truly effective disease intervention may require body-wide correction of SMN protein levels.
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