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DES gene
URL of this page: https://medlineplus.gov/genetics/gene/des/

DES gene

desmin

Normal Function

The DES gene provides instructions for making a protein called desmin. Desmin is found in heart (cardiac) muscle and in the muscles used for movement (skeletal muscle). Within muscle fibers, structures called sarcomeres generate the force needed for muscles to contract. Sarcomeres are linked together by structures called Z-discs to form myofibrils, which are the basic units of muscle fibers. Desmin surrounds Z-discs and plays an important role in organizing the structure and coordinating the function of muscle fibers. The organization of the sarcomeres and myofibrils provides the strength and stability that is needed during repeated cycles of muscle contraction and relaxation. 

Health Conditions Related to Genetic Changes

Myofibrillar myopathy

Variants (also called mutations) in the DES gene have been found to cause myofibrillar myopathy. This condition is characterized by muscle weakness (myopathy) that worsens over time. Many of the DES variants that cause myofibrillar myopathy lead to the substitution of one protein building block (amino acid) for another in desmin. The altered protein cannot properly interact with Z-discs, which disrupts the linking of sarcomeres and the structure and function of myofibrils. Myofibrils that are not organized correctly break down and form clumps (aggregates) of abnormal proteins within the sarcomere, which leads to the myopathy seen in people with myofibrillar myopathy. 

People with DES gene variants are more likely to have a weakened heart muscle (cardiomyopathy) than people with myofibrillar myopathy caused by variants in other genes. 

More About This Health Condition

Arrhythmogenic right ventricular cardiomyopathy

MedlinePlus Genetics provides information about Arrhythmogenic right ventricular cardiomyopathy

More About This Health Condition

Familial dilated cardiomyopathy

MedlinePlus Genetics provides information about Familial dilated cardiomyopathy

More About This Health Condition

Familial restrictive cardiomyopathy

MedlinePlus Genetics provides information about Familial restrictive cardiomyopathy

More About This Health Condition

Other disorders

Variants in the DES gene can also cause a rare neuromuscular disease called Kaeser syndrome, which is characterized by myopathy that typically develops in adulthood. Though the weakness often involves muscles in the the shoulder blade area (scapula) and the muscles of the lower leg and foot (peroneal), muscle weakness in other areas of the body has also been reported.

Other Names for This Gene

  • intermediate filament protein

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References

  • Brodehl A, Gaertner-Rommel A, Milting H. Molecular insights into cardiomyopathies associated with desmin (DES) mutations. Biophys Rev. 2018 Aug;10(4):983-1006. doi: 10.1007/s12551-018-0429-0. Epub 2018 Jun 20. Citation on PubMed
  • Cimiotti D, Budde H, Hassoun R, Jaquet K. Genetic Restrictive Cardiomyopathy: Causes and Consequences-An Integrative Approach. Int J Mol Sci. 2021 Jan 8;22(2):558. doi: 10.3390/ijms22020558. Citation on PubMed
  • Claeys KG, van der Ven PF, Behin A, Stojkovic T, Eymard B, Dubourg O, Laforet P, Faulkner G, Richard P, Vicart P, Romero NB, Stoltenburg G, Udd B, Fardeau M, Voit T, Furst DO. Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study. Acta Neuropathol. 2009 Mar;117(3):293-307. doi: 10.1007/s00401-008-0479-7. Epub 2009 Jan 17. Citation on PubMed
  • Ferrer I, Olive M. Molecular pathology of myofibrillar myopathies. Expert Rev Mol Med. 2008 Sep 3;10:e25. doi: 10.1017/S1462399408000793. Citation on PubMed
  • Fichna JP, Maruszak A, Zekanowski C. Myofibrillar myopathy in the genomic context. J Appl Genet. 2018 Nov;59(4):431-439. doi: 10.1007/s13353-018-0463-4. Epub 2018 Sep 10. Citation on PubMed
  • Goldfarb LG, Dalakas MC. Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease. J Clin Invest. 2009 Jul;119(7):1806-13. doi: 10.1172/JCI38027. Epub 2009 Jul 1. Citation on PubMed or Free article on PubMed Central
  • Hnia K, Ramspacher C, Vermot J, Laporte J. Desmin in muscle and associated diseases: beyond the structural function. Cell Tissue Res. 2015 Jun;360(3):591-608. doi: 10.1007/s00441-014-2016-4. Epub 2014 Oct 31. Citation on PubMed
  • McNally E, MacLeod H, Dellefave-Castillo L. Arrhythmogenic Right Ventricular Cardiomyopathy Overview. 2005 Apr 18 [updated 2023 May 11]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from http://www.ncbi.nlm.nih.gov/books/NBK1131/ Citation on PubMed
  • Schroder R, Schoser B. Myofibrillar myopathies: a clinical and myopathological guide. Brain Pathol. 2009 Jul;19(3):483-92. doi: 10.1111/j.1750-3639.2009.00289.x. Citation on PubMed
  • van Spaendonck-Zwarts KY, van Hessem L, Jongbloed JD, de Walle HE, Capetanaki Y, van der Kooi AJ, van Langen IM, van den Berg MP, van Tintelen JP. Desmin-related myopathy. Clin Genet. 2011 Oct;80(4):354-66. doi: 10.1111/j.1399-0004.2010.01512.x. Epub 2010 Jul 21. Citation on PubMed

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