The LRRK2 gene is mutated in a Chinese autosomal-dominant Parkinson's disease family

Genet Test Mol Biomarkers. 2013 Feb;17(2):131-4. doi: 10.1089/gtmb.2012.0294. Epub 2012 Dec 26.

Abstract

The mutation of the leucine-rich repeat kinase2 gene (LRRK2) is the most commonly detected genetic determinant of Parkinson's disease (PD). However, the specific role of the LRRK2 mutation in the occurrence of the autosomal-dominant family PD remains to be elucidated. In this study, we report a large Chinese LRRK2-related PD family with 33 members of four generations. Genomic DNA was isolated from peripheral blood specimens of 11 family members. The common LRRK2 mutations were screened by polymerase chain reaction, followed by polymorphic restriction enzyme digestion or direct DNA sequencing. We detected the G2385R mutation, a substitution at codon 2385 to produce a glycine-to-arginine phenotype, in two affected cases and one suspected case. Our data support the concept that the LRRK2 G2385R mutation may be involved in the pathogenesis of PD in this family.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Asian People / genetics*
  • Female
  • Genetic Predisposition to Disease*
  • Humans
  • Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
  • Male
  • Middle Aged
  • Mutation*
  • Parkinson Disease / ethnology
  • Parkinson Disease / genetics*
  • Pedigree
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length
  • Protein Serine-Threonine Kinases / genetics*
  • Sequence Analysis, DNA

Substances

  • LRRK2 protein, human
  • Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
  • Protein Serine-Threonine Kinases