Journal
ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS, VOL 16
Volume 16, Issue -, Pages 281-+Publisher
ANNUAL REVIEWS
DOI: 10.1146/annurev-genom-090314-025003
Keywords
DMD; therapy; clinical trials; muscle; muscular dystrophy
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Funding
- Medical Research Council [MC_UU_12021/2] Funding Source: Medline
- NIAMS NIH HHS [1R01AR064300-01A1] Funding Source: Medline
- NICHD NIH HHS [P30 HD18655] Funding Source: Medline
- MRC [MC_UU_12021/2] Funding Source: UKRI
- Medical Research Council [MC_UU_12021/2] Funding Source: researchfish
- Rosetrees Trust [M164-F1] Funding Source: researchfish
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Current molecular genomic approaches to human genetic disorders have led to an explosion in the identification of the genes and their encoded proteins responsible for these disorders. The identification of the gene altered by mutations in Duchenne and Becker muscular dystrophy was one of the earliest examples of this paradigm. The nearly 30 years of research partly outlined here exemplifies the road that similar current gene discovery protocols will be expected to travel, albeit much more rapidly owing to improved diagnosis of genetic disorders and an understanding of the spectrum of mutations thought to cause them. The identification of the protein dystrophin has led to a new understanding of the muscle cell membrane and the proteins involved in membrane stability, as well as new candidate genes for additional forms of muscular dystrophy. Animal models identified with naturally occurring mutations and developed by genetic manipulation have furthered the understanding of disease progression and underlying pathology. The biochemistry and molecular analysis of patient samples have led to the different dystrophin-dependent and -independent therapies that are currently close to or in human clinical trials. The lessons learned from decades of research on dystrophin have benefited the field of human genetics.
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