Skip to main content
Premium Trial:

Request an Annual Quote

Parkinson's Disease Mouse Model Reveals Possible Genetic Cause

Researchers at the Mount Sinai School of Medicine have discovered a gene mutation that may cause familial Parkinson's disease, reports HealthDay News. The study, published in The Journal of Neuroscience, is the first evidence that the LRRK2 gene regulates dopamine transmission and controls motor performance, and that a mutation in the gene changes its function. In a press release from Mount Sinai, the study's senior author, Zhenyu Yue, says that although it was clear that LRRK2 played a role in Parkinson's, researchers were stymied for lack of a suitable animal model with the mutated gene. For the study, Yue and his team used BACs to develop two mouse models with the normal or mutant LRRK2. The mice with the abnormal gene showed age-dependent reduction of dopamine. The researchers also showed that the mutated gene produces too much kinase activity in the brain, and are now studying whether the increased kinase activity accounts for the reduced dopamine levels.

The Scan

Study Finds Sorghum Genetic Loci Influencing Composition, Function of Human Gut Microbes

Focusing on microbes found in the human gut microbiome, researchers in Nature Communications identified 10 sorghum loci that appear to influence the microbial taxa or microbial metabolite features.

Treatment Costs May Not Coincide With R&D Investment, Study Suggests

Researchers in JAMA Network Open did not find an association between ultimate treatment costs and investments in a drug when they analyzed available data on 60 approved drugs.

Sleep-Related Variants Show Low Penetrance in Large Population Analysis

A limited number of variants had documented sleep effects in an investigation in PLOS Genetics of 10 genes with reported sleep ties in nearly 192,000 participants in four population studies.

Researchers Develop Polygenic Risk Scores for Dozens of Disease-Related Exposures

With genetic data from two large population cohorts and summary statistics from prior genome-wide association studies, researchers came up with 27 exposure polygenic risk scores in the American Journal of Human Genetics.