Research Roundup: New Test for Autism and More

Research in lab

Every week there are numerous scientific studies published. Here’s a look at some of the more interesting ones.

Researchers Develop New Technique to Detect Autism in Children

Children with autism spectrum disorder (ASD) scan faces differently than “neuro-typical” children. Using that information, researchers with the University of Waterloo developed a technique that analyzes how a child’s gaze transitions from parts of faces to others. They believe this technique could improve on the diagnosis of ASD.

“Many people are suffering from autism, and we need early diagnosis especially in children,” stated Mehrshad Sadria, a master’s student in Waterloo’s Department of Applied Mathematics. “The current approaches to determining if someone has autism are not really child-friendly. Our method allows for the diagnosis to be made more easily and with less possibility of mistakes.”

The research group studied 17 children with ASD and 23 neuro-typical children. They were shown 44 photographs of faces on a 19-inch screen which was integrated into an eye-tracking system. They found distinct differences in how the ASD and neuro-typical children focused their gaze and scanned the faces. The study was published in the journal Computers in Biology and Medicine.

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New Mutation Linked to Autism

Research has shown that a mutation in a gene involved in organizing the scaffolding of brain cells is linked to autism spectrum disorder (ASD). The research suggests that very early disruptions in development of the cerebral cortex, when it is just beginning to develop, precursor cells called radial glial cells (RGCs) develop differently when there is a mutation in the Memo1 gene, which is common in people with autism. Other types of autism appear to be linked to other changes, but some appear related to Memo1 mutations.

Exercise Improves Brain Function

Working with mice, neuroscientists found that a short burst of exercise stimulates the function of a gene that increases neuronal connections in the hippocampus, the part of the brain linked with learning and memory. Most previous research focused on sustained exercise, but this research studied short-term bursts of exercise, the human equivalent of a weekly game of basketball or 4,000 steps. One gene in particular, Mtss1L, was found to benefit from the exercise. That gene encodes a protein that results in the bending of the cell membrane, and that when stimulated, promoted growth of dendritic spines, where synapses form.

How PARP Inhibitors Work

PARP inhibitors are a relatively new family of cancer drugs, most commonly used to treat women with ovarian cancer with the BRCA1 and BRCA2 gene mutations. They are also looking promising in late-stage clinical trials in breast, prostate and pancreatic cancer. New research further outlines how the drugs actually work. Patients with BRCA1 or 2 mutations have problems repairing double-strand breaks in DNA, which puts them at increased risk for breast cancer. PARP inhibitors interfere with poly-ADP ribose polymerase (PARP1 and PARP2), that cells use to repair the damage to DNA that occurs normally. Up until now, researchers didn’t understand how the PARP inhibitors interfered with cell repair, but new research shows they prevent the control of the mechanisms that degrades one strand of DNA so it matches up with a copy used to repair it.

New Drug Combo to Treat Uveal Melanoma

Uveal melanoma is an extremely aggressive form of melanoma that affects the eye. It is rare and affects about 2,500 people in the U.S. annually, but half develop metastatic disease that usually effects the liver. A recent Phase III trial of a MEK inhibitor and chemotherapy had no effective on the cancer. The scientists screened 289 drugs, identifying four histone deacetylase (HDAC) inhibitors that are currently approved for other types of cancer, but appeared to work well with MEK inhibitors in uveal melanoma cell lines.

Antibiotics that Don’t Trigger Resistance

One of the biggest healthcare problems in the world is development of bacteria that are resistant to modern antibiotics. Researchers with the Institut national de la sante et de la recherche medicale (INSERM) have developed two new antibiotics that work against Gram-positive and Gram-negative multi-resistant bacteria. And at least in mice, they do not seem to trigger resistance. What the researchers did was identify a new bacterial toxin that they turned into antibiotics. The original compound had both toxic and antibiotic properties. They isolated the part of the molecule with antibiotic properties. These new types of antibiotics are called peptidomimetics.

A Protein that Removes Tau from the Brain

One of the defective proteins associated with Alzheimer’s disease is called tau. Researchers identified a molecule called VPS35 that detects and removes tau from brain cells. VPS35 sorts and transports dysfunctional proteins to degradation sites. The function of VPS35 is decreased in the brains of Alzheimer’s disease. Although tau is secondary in Alzheimer’s, it is the only protein to form deposits in the brain in Picks’ disease (a form of Alzheimer’s-like dementia) and progressive supra-nuclear palsy (PSP).

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