Desmin and heart disease

J. Scott Pattison, Jeffrey Robbins

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

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.
Pages411-424
Number of pages14
Volume9781617797880
ISBN (Electronic)9781617797880
ISBN (Print)1617797871, 9781617797873
DOIs
StatePublished - Dec 1 2012

Fingerprint

Desmin
Heart Diseases
Muscle
Crystallins
Myocardium
Skeletal Muscle
Intermediate Filament Proteins
Muscles
Mutation
Myofibrils
Muscular Diseases
Pathologic Processes
Epigenomics
Muscle Cells
Proteins
Cells
Maintenance

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)

Cite this

Pattison, J. S., & Robbins, J. (2012). Desmin and heart disease. In Cytoskeleton and Human Disease (Vol. 9781617797880, pp. 411-424). Humana Press Inc.. https://doi.org/10.1007/978-1-61779-788-0_19

Desmin and heart disease. / Pattison, J. Scott; Robbins, Jeffrey.

Cytoskeleton and Human Disease. Vol. 9781617797880 Humana Press Inc., 2012. p. 411-424.

Research output: Chapter in Book/Report/Conference proceedingChapter

Pattison, JS & Robbins, J 2012, Desmin and heart disease. in Cytoskeleton and Human Disease. vol. 9781617797880, Humana Press Inc., pp. 411-424. https://doi.org/10.1007/978-1-61779-788-0_19
Pattison JS, Robbins J. Desmin and heart disease. In Cytoskeleton and Human Disease. Vol. 9781617797880. Humana Press Inc. 2012. p. 411-424 https://doi.org/10.1007/978-1-61779-788-0_19
Pattison, J. Scott ; Robbins, Jeffrey. / Desmin and heart disease. Cytoskeleton and Human Disease. Vol. 9781617797880 Humana Press Inc., 2012. pp. 411-424
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