The discovery of dystrophin, the protein product of the Duchenne muscular dystrophy gene.
Duchenne muscular dystrophy
dystrophin
membrane cytoskeleton
skeletal muscle
Journal
The FEBS journal
ISSN: 1742-4658
Titre abrégé: FEBS J
Pays: England
ID NLM: 101229646
Informations de publication
Date de publication:
09 2020
09 2020
Historique:
received:
12
06
2020
accepted:
25
06
2020
pubmed:
2
7
2020
medline:
18
5
2021
entrez:
2
7
2020
Statut:
ppublish
Résumé
Duchenne muscular dystrophy was a well-established medical and genetic enigma by the 1970s. Why was the new mutation rate so high in all world populations? Why were affected boys doing well in early childhood, but then showed relentless progression of muscle wasting? What was wrong with the muscle? The identification of the first fragments of DMD gene cDNA in 1986, prediction of the entire 3685 amino acid protein sequence, and production of antibodies to dystrophin, both in 1987, provided key tools to understand DMD genetics and molecular pathology. The identification of dystrophin nucleated extensive research on myofiber membrane cytoskeleton, membrane repair, muscle regeneration, and failure of regeneration. This in turn led to molecular therapeutics based on understanding of dystrophin structure and function. This historical perspective describes the events surrounding the initial identification of the dystrophin protein.
Identifiants
pubmed: 32608079
doi: 10.1111/febs.15466
pmc: PMC7540009
doi:
Substances chimiques
Dystrophin
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
3879-3887Informations de copyright
© 2020 The Authors. The FEBS Journal published by John Wiley & Sons Ltd on behalf of Federation of European Biochemical Societies.
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