Category Health/Medical

Brian J. O’Roak, Ph.D., assistant professor of molecular and medical genetics, OHSU, January 4, 2017. Credit: OHSU/John Valls

Autism spectrum disorder affects ~1 out of every 68 children in the US. Despite expansive study, the origin and risk factors of the complex condition are not fully understood. To better understand the root causes, an team led by researchers at OHSU in Portland, Oregon has applied a new systematic analysis to a cohort of 2,300 families who have a single child affected with autism. The study focused on identifying and characterizing low-lying genetic mutations that may have been missed in previous research, given these mutations are only present in a fraction of the bulk DNA of an individual.

Known as postzygotic mosaic mutations, or PMMs, these genetic changes occur ...

Asthma medicine has positive side effects, a study from the University of Bergen shows. Copyright: Colourbox

Using data gathered from 100 million Norwegian prescriptions, researchers have found that asthma medicine can halve a patient’s risk of developing Parkinson´s disease. Researchers at the Department of Global Public Health and Primary Care (IGS) at the University of Bergen (UiB) have completed a large study that included data from the Norwegian Prescription Database, in cooperation with researchers at Harvard University.

“Our analysis of data from the whole Norwegian population has been decisive for the conclusion in this study,” says Professor Trond Riise at IGS. He leads the registery study in Norway...

Nischarin Inhibition Alters Energy Metabolism by Activating AMP-Activated Protein Kinase. Journal of Biological Chemistry, 2017; jbc.M117.784256 DOI: 10.1074/jbc.M117.784256

Research has demonstrate protein Nischarin may treat or prevent metabolic diseases including obesity and diabetes. Nischarin is a novel protein discovered by the Alahari lab. The research team demonstrated that it functions as a molecular scaffold that holds and interacts with several protein partners in a number of biological processes. The lab’s earlier research found that Nischarin acts as a tumor suppressor that may inhibit the spread, or metastasis, of breast and other cancers.

The current research project, conducted in a knockout mouse model, found that Nischarin interacts with and controls the activity of a gen...

In vitro functional analysis showed that the CX3CR1-Ala55Thr mutation inhibited cell signaling induced by fractalkine, the ligand for CX3CR1. The combined data suggested that the variant Ala55Thr in CX3CR1 might result in the disruption of CX3CR1 signaling. Our results strengthen the association between microglia-specific genes and neurodevelopmental disorders.

Osaka University researchers show in a multi-institute collaboration that a single amino acid substitution in the protein CX3CR1 may act as predictor for schizophrenia and autism. Huntington’s disease, cystic fibrosis, and muscular dystrophy are all diseases that can be traced to a single mutation. Diagnosis in asymptomatic patient for these diseases is relatively easy – You have the mutation? Then you are at risk...