In Science this week, an international research team reports the identification of a compound, found in a number of medicines, that appears to regulate a genetic risk factor for Parkinson's disease. In looking for ways to prevent or delay the hallmark accumulation of alpha-synuclein in the brains of Parkinson's patients, the scientists identified beta-2 adrenergic receptor agonists as strong suppressors of alpha-synuclein gene expression. By analyzing the health records of over 4 million Norwegians over 11 years, the investigators also linked use of the asthma drug salbutamol — a beta-2 adrenergic receptor agonist — with a lower risk of Parkinson's. Use of the hypertension drug propranolol, which is known to promote alpha-synuclein, was associated with a higher risk of the disease.
And in Science Translational Medicine, a group of Australian and US researchers presents a new, noninvasive approach for identifying rare autosomal trisomies. Using their method — which involves systematically analyzing whole-genome sequencing data from all chromosomes in maternal plasma cell-free DNA — the team was able to identify 399 previously undetected chromosomal abnormalities in samples from nearly 90,000 women across two cohorts. In the 57 cases where follow-up data were available, 22 trisomies were associated with miscarriages and 14 proceeded to normal live births. The technique was further developed to estimate the origins of trisomies and relative proportions of fetal tissues affected, which may aid in prognosis. The researchers note that most labs do not test for rare autosomal trisomies and that patients should be given the option of receiving test results from all chromosomes.