Research Roundup: Genomic Dark Matter Mutation and More


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

Mutation Found in Dark Matter of the Genome New Target for Cancer

The so-called dark matter of the genome is the non-coding regions that make up about 98% of the genome. Researchers at the Ontario Institute for Cancer Research (OICR) recently identified a novel cancer-driven mutation in this region that is linked to brain, liver and blood cancer. They published the two studies in the journal Nature.

“Non-coding DNA, which makes up 98% of the genome, is notoriously difficult to study and is often overlooked since it does not code for proteins,” said Lincoln Stein, co-lead of the two research studies and Head of Adaptive Oncology at OICR. “By carefully analyzing these regions, we have discovered a change in one letter of the DNA code that can drive multiple types of cancer. In turn, we’ve found a new cancer mechanism that we can target to tackle the disease.”

The mutation is dubbed U1-snRNA, and it appears to disrupt normal RNA splicing, which changes the transcription of genes that drive cancer. The mutation was identified in tumors of patients with specific subtypes of brain cancer and was found in almost all of the samples. The cancer was sonic hedgehog medulloblastoma. It was also found in samples of chronic lymphocytic leukemia (CLL) and hepatocellular carcinoma.

“Our unexpected discovery uncovered an entirely new way to target these cancers that are tremendously difficult to treat and have high mortality rates,” said Michael Taylor, pediatric neurosurgeon and senior scientist in Development and Stem Cell Biology and Garron Family Chair in in Childhood Cancer Research at The Hospital for Sick Children and co-lead of the studies. “We’ve found that with one ‘typo’ in the DNA code, the resultant cancers have hundreds of mutant proteins that we might be able to target using currently available immunotherapies.”

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Diagnosing Lyme Disease in 15 Minutes

About 300,000 people are diagnosed with Lyme disease each year. Borrelia burgdorferi is transmitted by the bite of infected Ixodes ticks, and if untreated, can cause neurologic, cardiac, and rheumatologic complications. Current testing involves two complex tests, ELISA and western blot. Researchers have developed a rapid microfluidic test that can provide comparable results in as little as 15 minutes. It will require more refinement and testing before widespread use.

Gene Therapy for Wet Age-Related Macular Degeneration Shows Promise

Research was recently presented on six patients who received a gene therapy for wet age-related macular degeneration (AMD). The patients have gone at least six months without continued injections for the disease that were previously required every four to six weeks. The therapy, which is injected into the eye, generates a molecule much like aflibercept, a broadly used anti-VEGF drug.

How Dementia Spreads Throughout Brain Networks

Frontotemporal dementia (FDT) is similar to Alzheimer’s disease, but tends to hit patients earlier and affects different parts of the brain. Researchers studied how well neural network maps made from brain scans in healthy people could predict the spread of brain atrophy in FTD patients over several years. They recruited 42 patients at the UCSF Memory and Aging Center with a form of FTD and 30 with another form. They received MRI scans and then follow-up scans a year later to determine how the disease had progressed. They found that the standardized connectivity maps were able to predict the spread of the disease.

Mucus and Microbes: A “Therapeutic Gold Mine.”

A specific type of molecule called glycans that are found in mucus prevent bacteria from communicating with each other. Mucus also prevents the bacteria from forming infectious biofilms. It is also pointed out that more than 200 square meters of our bodies are lined with mucus. There are hundreds of different types of glycans found in mucus, and most of them are responsible for suppressing bacteria. Katharina Ribbeck, a professor at the Massachusetts Institute of Technology, says, “What we have in mucus is a therapeutic gold mine.”

Mechanisms that Regulate Brain Inflammation

The role of brain inflammation in diseases like Alzheimer’s and Parkinson’s is becoming better understood. Researchers recently identified mechanisms that regulate brain inflammation, which has the potential to open new avenues for treating and preventing these diseases. The scientists found that a protein called TET2 modulates the immune response in microglia, immune cells in the brain, during inflammation. In mice engineered not to have TET2 in the microglia, neuroinflammation is reduced. Normally, TET2 with other proteins regulates the activity of genes by removing specific chemical markers from DNA, but TET2 appears to behave differently in microglia.

Pilot Study: Even Short-Term Vaping Causes Lung Inflammation

Research out of The Ohio State University Comprehensive Cancer Center found cellular inflammation was caused by e-cigarette, i.e., vaping, use in both long-term smokers and people who did not smoke. They used bronchoscopy to evaluate for inflammation and smoking-related effects and found a measurable increase in inflammation after only four weeks of vaping without nicotine or flavors. The amount of inflammation was small compared to the control group, but the data suggests that even short-term use can result in inflammatory changes at a cellular level. Inflammation in smoking is a driver of lung cancer and other respiratory diseases.

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