Repairing the tears

Dysferlin in muscle membrane repair

Katherine R. Doherty, Elizabeth M. McNally*

*Corresponding author for this work

Research output: Contribution to journalShort survey

55 Citations (Scopus)

Abstract

Many muscular dystrophies arise from enhanced muscle degeneration, but one muscular dystrophy subtype has now been shown to arise from defective muscle membrane repair. Mutations in the gene encoding dysferlin cause muscular dystrophy, and recent work has demonstrated a role for this protein in resealing muscle membrane tears. Thus, two broad categories of muscle membrane defects can now be defined: those with inherent instability and those with compromised repair. The latter might be relevant for muscle wasting that occurs with aging.

Original languageEnglish (US)
Pages (from-to)327-330
Number of pages4
JournalTrends in Molecular Medicine
Volume9
Issue number8
DOIs
StatePublished - Aug 1 2003

Fingerprint

Tears
Muscular Dystrophies
Muscles
Membranes
Mutation
Genes
Proteins

ASJC Scopus subject areas

  • Molecular Medicine
  • Molecular Biology

Cite this

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Repairing the tears : Dysferlin in muscle membrane repair. / Doherty, Katherine R.; McNally, Elizabeth M.

In: Trends in Molecular Medicine, Vol. 9, No. 8, 01.08.2003, p. 327-330.

Research output: Contribution to journalShort survey

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T2 - Dysferlin in muscle membrane repair

AU - Doherty, Katherine R.

AU - McNally, Elizabeth M.

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N2 - Many muscular dystrophies arise from enhanced muscle degeneration, but one muscular dystrophy subtype has now been shown to arise from defective muscle membrane repair. Mutations in the gene encoding dysferlin cause muscular dystrophy, and recent work has demonstrated a role for this protein in resealing muscle membrane tears. Thus, two broad categories of muscle membrane defects can now be defined: those with inherent instability and those with compromised repair. The latter might be relevant for muscle wasting that occurs with aging.

AB - Many muscular dystrophies arise from enhanced muscle degeneration, but one muscular dystrophy subtype has now been shown to arise from defective muscle membrane repair. Mutations in the gene encoding dysferlin cause muscular dystrophy, and recent work has demonstrated a role for this protein in resealing muscle membrane tears. Thus, two broad categories of muscle membrane defects can now be defined: those with inherent instability and those with compromised repair. The latter might be relevant for muscle wasting that occurs with aging.

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JO - Trends in Molecular Medicine

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