Animal Models of Muscular Dystrophy

Division of Medical Genetics, Department of Neurology, University of Washington, Seattle, Washington, USA.
Progress in molecular biology and translational science (Impact Factor: 3.11). 01/2012; 105:83-111. DOI: 10.1016/B978-0-12-394596-9.00004-4
Source: PubMed

ABSTRACT The muscular dystrophies (MDs) represent a diverse collection of inherited human disorders, which affect to varying degrees skeletal, cardiac, and sometimes smooth muscle (Emery, 2002). To date, more than 50 different genes have been implicated as causing one or more types of MD (Bansal et al., 2003). In many cases, invaluable insights into disease mechanisms, structure and function of gene products, and approaches for therapeutic interventions have benefited from the study of animal models of the different MDs (Arnett et al., 2009). The large number of genes that are associated with MD and the tremendous number of animal models that have been developed preclude a complete discussion of each in the context of this review. However, we summarize here a number of the more commonly used models together with a mixture of different types of gene and MD, which serves to give a general overview of the value of animal models of MD for research and therapeutic development.

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    • "LGMD2B, Miyoshi myopathy, and distal myopathy are progressive dystrophies that present clinically as weakness in the proximal or distal muscles with elevated serum CK and muscle degeneration (Nigro, 2003; Klinge et al., 2008; Amato and Brown, 2011). These diseases are established as late-adult onset both clinically (Gordon et al., 1993; Klinge et al., 2008; Angelini et al., 2010, 2011; Gayathri et al., 2011) as well as in preclinical models (Turk et al., 2006; Nemoto et al., 2007; Ng et al., 2012). While these disorders have been linked to the mutation or ablation of the dysferlin gene (DYSF) (Illarioshkin et al., 2000; Vainzof et al., 2001; Nguyen et al., 2005; Cacciottolo et al., 2011), a consensus on the mechanistic basis of disease has not been reached. "
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