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LRRK2: cause, risk, and mechanism

Coro Paisán-Ruiz1, Patrick A Lewis, Andrew B Singleton

  • 1Department of Neurology, Psychiatry, and Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, NY, USA.

Journal of Parkinson'S Disease
|August 14, 2013
PubMed

Insights

Mutations in the Leucine-Rich Repeat Kinase 2 (LRRK2) gene cause Parkinson's disease. Research highlights LRRK2's role in disease development and explores its kinase activity as a potential therapeutic target.

Area of Science:

  • Genetics
  • Neuroscience
  • Molecular Biology

Background:

  • Mutations in the Leucine-Rich Repeat Kinase 2 (LRRK2) gene were identified as a cause of Parkinson's disease in 2004.
  • A specific LRRK2 mutation is a common cause of Parkinson's disease across diverse populations.
  • Genetic studies reveal various LRRK2 gene associations with Parkinson's disease risk, including common alleles affecting protein sequence and expression.

Purpose of the Study:

  • To review the genetic links between LRRK2 and Parkinson's disease.
  • To summarize functional characterization of LRRK2 and its mutations.
  • To discuss the potential of LRRK2 kinase activity as a therapeutic target.

Main Methods:

  • Genetic investigation of LRRK2.
  • Functional characterization of LRRK2 mutations.
  • Review of existing research on LRRK2 and Parkinson's disease.

Main Results:

  • LRRK2 mutations are a significant genetic cause of Parkinson's disease.
  • Common LRRK2 alleles influence Parkinson's disease risk through protein alterations and expression changes.
  • Kinase activity of LRRK2 is a focus for therapeutic strategies.

Conclusions:

  • Significant progress has been made in understanding LRRK2's role in Parkinson's disease.
  • LRRK2 kinase activity is a promising, though not yet confirmed, therapeutic target.
  • Future research in LRRK2 is expected to yield further insights and potential treatments for Parkinson's disease.

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