Abstract
To understand the genetic origin of I2020T mutation in the kinase domain of leucine rich repeat kinase 2 (LRRK2), we investigated the original PARK8 Japanese family (Sagamihara family) and a German family (family 32), both of which were found to harbor I2020T as the causal mutation for autosomal dominant familial Parkinson's disease (PD). Microsatellite-haplotype analysis around the LRRK2 gene indicated that the mutation-carrying haplotypes of the two families were distinct from each other. This indicated that the I2020T mutation, an essential pathogenic mutation of PARK8-related PD, had occurred independently in the two PD families.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Aged
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Asian People / genetics
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Chromosome Disorders / genetics
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DNA Mutational Analysis
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Female
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Genes, Dominant / genetics
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Genetic Predisposition to Disease / genetics*
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Genetic Testing
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Genotype
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Germany / ethnology
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Haplotypes / genetics
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Humans
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Japan / ethnology
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Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
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Male
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Microsatellite Repeats / genetics
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Middle Aged
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Mutation / genetics*
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Parkinson Disease / enzymology*
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Parkinson Disease / ethnology
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Parkinson Disease / genetics*
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Pedigree
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Protein Serine-Threonine Kinases / chemistry
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Protein Serine-Threonine Kinases / genetics*
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White People / genetics
Substances
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LRRK2 protein, human
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Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
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Protein Serine-Threonine Kinases