A gene on the long arm of chromosome 6 has been linked to an inherited form of Parkinson’s disease, called autosomal recessive juvenile parkinsonism (AR-JP). The research team of Nobuyoshi Shimizu and colleagues at Keio University School of Medicine in Tokyo, Japan, isolated and cloned the gene, which is mutated in various unrelated AR-JP patients. The gene is expressed strongly in the substantia nigra, the part of the brain affected in Parkinson’s disease. The protein product, named "parkin," appears to be responsible for the pathogenesis of AR-JP. Parkin appears to be similar to the ubiquitin family of proteins, which are a component of paired helical filaments in Alzheimer’s disease and of Lewy bodies in Parkinson’s disease. In their article in the 9 April issue of Nature, the authors suggest several possible mechanisms by which defective parkin might contribute to neurodegeneration.—June Kinoshita
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- Kitada T, Asakawa S, Hattori N, Matsumine H, Yamamura Y, Minoshima S, Yokochi M, Mizuno Y, Shimizu N. Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. Nature. 1998 Apr 9;392(6676):605-8. PubMed.