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Genetics Home Reference: your guide to understanding genetic conditions
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DMPK

Reviewed November 2010

What is the official name of the DMPK gene?

The official name of this gene is “dystrophia myotonica-protein kinase.”

DMPK is the gene's official symbol. The DMPK gene is also known by other names, listed below.

What is the normal function of the DMPK gene?

The DMPK gene provides instructions for making a protein called myotonic dystrophy protein kinase. Although the specific function of this protein is unknown, it appears to play an important role in muscle, heart, and brain cells. This protein may be involved in communication within cells. It also appears to regulate the production and function of important structures inside muscle cells by interacting with other proteins. For example, myotonic dystrophy protein kinase has been shown to turn off (inhibit) a specific subunit (PPP1R12A) of a muscle protein called myosin phosphatase. Myosin phosphatase is an enzyme that plays a role in muscle tensing (contraction) and relaxation.

One region of the DMPK gene contains a segment of three DNA building blocks (nucleotides) that is repeated multiple times. This sequence, which is written as CTG, is called a triplet or trinucleotide repeat. In most people, the number of CTG repeats in this gene ranges from 5 to 34.

How are changes in the DMPK gene related to health conditions?

myotonic dystrophy - caused by mutations in the DMPK gene

Type 1 myotonic dystrophy results from a mutation in the DMPK gene known as a trinucleotide repeat expansion. This mutation increases the size of the repeated CTG segment in the DMPK gene. People with type 1 myotonic dystrophy have from 50 to 5,000 CTG repeats in most cells. The number of repeats may be even greater in certain types of cells, such as muscle cells.

The mutated DMPK gene produces an altered version of messenger RNA, which is a molecular blueprint of the gene that is normally used to guide the production of proteins. Researchers have found that the altered messenger RNA traps proteins to form clumps within the cell. The clumps interfere with the production of many other proteins. These changes prevent muscle cells and cells in other tissues from functioning properly, leading to muscle weakness and the other features of type 1 myotonic dystrophy.

The size of the trinucleotide repeat expansion is associated with the severity of signs and symptoms. People with the classic features of type 1 myotonic dystrophy, including muscle weakness and wasting beginning in adulthood, usually have between 100 and 1,000 CTG repeats. People born with the more severe congenital form of type 1 myotonic dystrophy tend to have a larger number of CTG repeats, often more than 2,000. This form of the condition is apparent in infancy and may involve life-threatening health problems.

As the altered DMPK gene is passed from one generation to the next, the size of the CTG repeat expansion often increases in size. People with 35 to 49 CTG repeats have not been reported to develop type 1 myotonic dystrophy, but their children are at risk of having the disorder if the number of CTG repeats increases. Repeat lengths from 35 to 49 are called premutations.

Where is the DMPK gene located?

Cytogenetic Location: 19q13.3

Molecular Location on chromosome 19: base pairs 45,769,708 to 45,782,556

The DMPK gene is located on the long (q) arm of chromosome 19 at position 13.3.

The DMPK gene is located on the long (q) arm of chromosome 19 at position 13.3.

More precisely, the DMPK gene is located from base pair 45,769,708 to base pair 45,782,556 on chromosome 19.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about DMPK?

You and your healthcare professional may find the following resources about DMPK helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the DMPK gene or gene products?

  • DM1
  • DM1PK
  • Dm15
  • DMK
  • DM-kinase
  • DM-PK
  • DMPK_HUMAN
  • DM protein kinase
  • dystrophia myotonica 1
  • dystrophia myotonica kinase, B15
  • MDPK
  • MT-PK
  • myotonic dystrophy protein kinase
  • myotonin
  • myotonin-protein kinase

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding DMPK?

anticipation ; cell ; congenital ; contraction ; DNA ; enzyme ; gene ; kinase ; messenger RNA ; muscle cells ; muscle, heart ; mutation ; myosin ; phosphatase ; protein ; RNA ; subunit ; trinucleotide repeat ; wasting

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Botta A, Rinaldi F, Catalli C, Vergani L, Bonifazi E, Romeo V, Loro E, Viola A, Angelini C, Novelli G. The CTG repeat expansion size correlates with the splicing defects observed in muscles from myotonic dystrophy type 1 patients. J Med Genet. 2008 Oct;45(10):639-46. doi: 10.1136/jmg.2008.058909. Epub 2008 Jul 8. (http://www.ncbi.nlm.nih.gov/pubmed/18611984?dopt=Abstract)
  • Cho DH, Tapscott SJ. Myotonic dystrophy: emerging mechanisms for DM1 and DM2. Biochim Biophys Acta. 2007 Feb;1772(2):195-204. Epub 2006 Jun 20. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16876389?dopt=Abstract)
  • Day JW, Ranum LP. RNA pathogenesis of the myotonic dystrophies. Neuromuscul Disord. 2005 Jan;15(1):5-16. Epub 2004 Nov 26. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15639115?dopt=Abstract)
  • Ebralidze A, Wang Y, Petkova V, Ebralidse K, Junghans RP. RNA leaching of transcription factors disrupts transcription in myotonic dystrophy. Science. 2004 Jan 16;303(5656):383-7. Epub 2003 Dec 4. (http://www.ncbi.nlm.nih.gov/pubmed/14657503?dopt=Abstract)
  • Fardaei M, Rogers MT, Thorpe HM, Larkin K, Hamshere MG, Harper PS, Brook JD. Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells. Hum Mol Genet. 2002 Apr 1;11(7):805-14. (http://www.ncbi.nlm.nih.gov/pubmed/11929853?dopt=Abstract)
  • Gene Review: Myotonic Dystrophy Type 1 (http://www.ncbi.nlm.nih.gov/books/NBK1165)
  • Kaliman P, Llagostera E. Myotonic dystrophy protein kinase (DMPK) and its role in the pathogenesis of myotonic dystrophy 1. Cell Signal. 2008 Nov;20(11):1935-41. doi: 10.1016/j.cellsig.2008.05.005. Epub 2008 May 18. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18583094?dopt=Abstract)
  • Machuca-Tzili L, Brook D, Hilton-Jones D. Clinical and molecular aspects of the myotonic dystrophies: a review. Muscle Nerve. 2005 Jul;32(1):1-18. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15770660?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/1760)
  • Ranum LP, Day JW. Myotonic dystrophy: RNA pathogenesis comes into focus. Am J Hum Genet. 2004 May;74(5):793-804. Epub 2004 Apr 2. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15065017?dopt=Abstract)
  • Salvatori S, Fanin M, Trevisan CP, Furlan S, Reddy S, Nagy JI, Angelini C. Decreased expression of DMPK: correlation with CTG repeat expansion and fibre type composition in myotonic dystrophy type 1. Neurol Sci. 2005 Oct;26(4):235-42. (http://www.ncbi.nlm.nih.gov/pubmed/16193250?dopt=Abstract)
  • Ueda H, Ohno S, Kobayashi T. Myotonic dystrophy and myotonic dystrophy protein kinase. Prog Histochem Cytochem. 2000;35(3):187-251. Review. (http://www.ncbi.nlm.nih.gov/pubmed/11064921?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: November 2010
Published: September 15, 2014