The Pathogenesis and Therapy of Muscular Dystrophies.
Annu Rev Genomics Hum Genet
; 16: 281-308, 2015.
Article
em En
| MEDLINE
| ID: mdl-26048046
ABSTRACT
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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Distrofina
/
Distrofias Musculares
Tipo de estudo:
Etiology_studies
/
Guideline
Limite:
Animals
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Humans
Idioma:
En
Revista:
Annu Rev Genomics Hum Genet
Ano de publicação:
2015
Tipo de documento:
Article