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Genetics Home Reference: your guide to understanding genetic conditions
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PARK gene family

Reviewed May 2012

What are the PARK genes?

Genes in this family are associated with Parkinson disease, a disorder of the nervous system that causes progressive problems with movement and coordination. Most cases of Parkinson disease result from a combination of genetic and environmental factors, many of which are unknown. However, more than a dozen genes have been identified that, when altered, either cause or influence the risk of developing the disease.

Genes in the Parkinson disease gene family have a variety of functions in the brain, and some are also active in other organs and tissues. Mutations in these genes affect the function and survival of particular nerve cells (neurons) in parts of the brain critical for normal movement, balance, and coordination. Normally, these neurons produce a chemical messenger called dopamine, which transmits signals within the brain to produce smooth physical movements. When dopamine-producing neurons become damaged and die, the brain becomes unable to control muscle movement. The progressive loss of these neurons underlies the movement abnormalities associated with Parkinson disease.

Some of the genes in the Parkinson disease family are also associated with other neurological conditions. For example, mutations in the PLA2G6 gene can cause infantile neuroaxonal dystrophy, and SNCA gene mutations can cause multiple system atrophy and dementia with Lewy bodies.

Which genes are included in the PARK gene family?

The HUGO Gene Nomenclature Committee (HGNC) provides a list of genes in the PARK family (http://www.genenames.org/genefamilies/PARK).

Genetics Home Reference summarizes the normal function and health implications of these members of the PARK gene family: LRRK2, PARK2, PARK7, PINK1, PLA2G6, SNCA, and UCHL1.

What conditions are related to genes in the PARK gene family?

Genetics Home Reference includes these conditions related to genes in the PARK gene family:

  • infantile neuroaxonal dystrophy
  • multiple system atrophy
  • Parkinson disease

Where can I find additional information about the PARK gene family?

You may find the following resources about the PARK gene family helpful.

  • Parkinson Disease Mutation Database (http://www.molgen.vib-ua.be/PDMutDB/)
  • Leiden Open Variation Database: Parkinson's Disease Mutation Database (http://grenada.lumc.nl/LOVD2/TPI/home.php)
  • National Human Genome Research Institute: Learning About Parkinson Disease (http://www.genome.gov/10001217)
  • Basic Neurochemistry (sixth edition, 1999): Parkinson's Disease (http://www.ncbi.nlm.nih.gov/books/NBK28062/)
  • Parkinson's Disease Mutation Database (http://www.thepi.org/parkinson-s-disease-mutation-database/) (The Parkinson’s Institute and Clinical Center)

What glossary definitions help with understanding the PARK gene family?

amyloid ; atrophy ; calcium ; carboxyl ; dementia ; dopamine ; gene ; kinase ; leucine ; Lewy bodies ; ligase ; nervous system ; neurological ; precursor ; protein ; ubiquitin

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

References

These sources were used to develop the Genetics Home Reference summary for the PARK gene family.

  • Bekris LM, Mata IF, Zabetian CP. The genetics of Parkinson disease. J Geriatr Psychiatry Neurol. 2010 Dec;23(4):228-42. doi: 10.1177/0891988710383572. Epub 2010 Oct 11. Review. (http://www.ncbi.nlm.nih.gov/pubmed/20938043?dopt=Abstract)
  • Lees AJ, Hardy J, Revesz T. Parkinson's disease. Lancet. 2009 Jun 13;373(9680):2055-66. doi: 10.1016/S0140-6736(09)60492-X. Review. Erratum in: Lancet. 2009 Aug 29;374(9691):684. (http://www.ncbi.nlm.nih.gov/pubmed/19524782?dopt=Abstract)
  • Nuytemans K, Theuns J, Cruts M, Van Broeckhoven C. Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update. Hum Mutat. 2010 Jul;31(7):763-80. doi: 10.1002/humu.21277. Review. (http://www.ncbi.nlm.nih.gov/pubmed/20506312?dopt=Abstract)
  • Zimprich A. Genetics of Parkinson's disease and essential tremor. Curr Opin Neurol. 2011 Aug;24(4):318-23. doi: 10.1097/WCO.0b013e3283484b87. Review. (http://www.ncbi.nlm.nih.gov/pubmed/21734494?dopt=Abstract)
  • Corti O, Lesage S, Brice A. What genetics tells us about the causes and mechanisms of Parkinson's disease. Physiol Rev. 2011 Oct;91(4):1161-218. doi: 10.1152/physrev.00022.2010. Review. (http://www.ncbi.nlm.nih.gov/pubmed/22013209?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: May 2012
Published: March 30, 2015