Desmin and heart disease

J. Scott Pattison, Jeffrey Robbins

Research output: Chapter in Book/Report/Conference proceedingChapter


Desmin is the major intermediate filament protein in muscle cells and is one of the earliest myogenic markers of skeletal and cardiac muscle differentiation. The muscle-specific expression of desmin is regulated by a unique combination of transcriptional and epigenetic controls. Desmin protein functions in the maintenance of myofibril organization and structural and functional integrity of muscle. Loss-of-function studies in mice suggest an additional role for desmin in mitochondrial distribution, morphology, and function. Mutations in desmin or its chaperone protein αB-crystallin are associated with myopathy of skeletal and cardiac muscle. The desminopathies are characterized by the accumulation of intracellular desmin-positive protein inclusions and gain of function transgenic models show that mutations in desmin and αB-crystallin are autosomal dominant and sufficient to recapitulate the most important aspects of the human disease. Further study of these models has revealed that a large number of pathological processes are involved in disease development, which may provide starting points for targeting future therapeutic interventions.

Original languageEnglish (US)
Title of host publicationCytoskeleton and Human Disease
PublisherHumana Press Inc.
Number of pages14
ISBN (Electronic)9781617797880
ISBN (Print)1617797871, 9781617797873
StatePublished - Dec 1 2012
Externally publishedYes

ASJC Scopus subject areas

  • General Biochemistry, Genetics and Molecular Biology


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