Lifeboat Foundation: Safeguarding Humanity
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Category: genetics

UC San Francisco researchers have discovered how a mutation in a gene regulator called the TERT promoter—the third most common mutation among all human cancers and the most common mutation in the deadly brain cancer glioblastoma—confers “immortality” on tumor cells, enabling the unchecked cell division that powers their aggressive growth.

The research, published September 10, 2018 in Cancer Cell, found that patient-derived glioblastoma cells with TERT promoter mutations depend on a particular form of a protein called GABP for their survival. GABP is critical to the workings of most cells, but the researchers discovered that the specific component of this protein that activates mutated TERT promoters, a subunit called GABP-ß1L, appears to be dispensable in : Eliminating this subunit using CRISPR-based gene editing dramatically slowed the growth of the human in lab dishes and when they were transplanted into mice, but removing GABP-ß1L from healthy cells had no discernable effect.

“These findings suggest that the ß1L subunit is a promising new drug target for aggressive glioblastoma and potentially the many other cancers with TERT promoter mutations,” said study senior author Joseph Costello, Ph.D., a leading UCSF neuro-oncology researcher.

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Networks are at the heart of everything from communications systems to pandemics. Now researchers have found that a unique type of network also underlies the structures of critical cellular compartments known as membraneless organelles. These findings may provide key insights into the role of these structures in both disease and cellular operations.

“Prior to this study, we knew the basic physical principle by which these protein-rich compartments form — they condense from the cytoplasm into liquid droplets like dew on a blade of grass,” said David Sanders, a post-doctoral researcher in Chemical and Biological Engineering at Princeton University. “But unlike dew drops, which are composed of a single component (water), cellular droplets are intimidatingly complex. Our work uncovers surprisingly simple principles that we think are universal to the assembly of liquid organelles, and opens new frontiers into studying their role in health and disease.”

Sanders is the lead author in an article in the journal Cell describing a blueprint for the assembly of these liquid structures, also called condensates. The researchers looked closely at two types of condensates, stress granules and processing bodies (“P-bodies”). In the Cell paper, researchers directed by Clifford Brangwynne, a professor of Chemical and Biological Engineering at Princeton and the Howard Hughes Medical Institute, combined genetic engineering and live cell microscopy approaches to reveal the rules underlying the assembly and structure of stress granules, and why they remain distinct from their close relatives, P-bodies.

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The National Aeronautics and Space Administration, NASA, aims to send human missions to Mars in the 2030s. But scientists are still trying to learn more about the potential cancer risks for astronauts due to radiation exposure. Cancer risk from galactic cosmic radiation exposure is considered a potential “showstopper” for a manned mission to Mars.

A team led by researchers at Colorado State University used a novel approach to test assumptions in a model used by NASA to predict these . The NASA model predicts that astronauts will have more than a three percent risk of dying of from the exposures they will receive on a Mars mission. That level of risk exceeds what is considered acceptable.

The study, “Genomic mapping in outbred mice reveals overlap in genetic susceptibility for HZE ion- and gamma-ray-induced tumors,” was published April 15 in Science Advances.

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It is an engineer’s dream to build a robot as competent as an insect at locomotion, directed action, navigation, and survival in complex conditions. But as well as studying insects to improve robotics, in parallel, robot implementations have played a useful role in evaluating mechanistic explanations of insect behavior, testing hypotheses by embedding them in real-world machines. The wealth and depth of data coming from insect neuroscience hold the tantalizing possibility of building complete insect brain models. Robotics has a role to play in maintaining a focus on functional understanding—what do the neural circuits need to compute to support successful behavior?

Insect brains have been described as “minute structures controlling complex behaviors” (1): Compare the number of neurons in the fruit fly brain (∼135,000) to that in the mouse (70 million) or human (86 billion). Insect brain structures and circuits evolved independently to solve many of the same problems faced by vertebrate brains (or a robot’s control program). Despite the vast range of insect body types, behaviors, habitats, and lifestyles, there are many surprising consistencies across species in brain organization, suggesting that these might be effective, efficient, and general-purpose solutions.

Unraveling these circuits combines many disciplines, including painstaking neuroanatomical and neurophysiological analysis of the components and their connectivity. An important recent advance is the development of neurogenetic methods that provide precise control over the activity of individual neurons in freely behaving animals. However, the ultimate test of mechanistic understanding is the ability to build a machine that replicates the function. Computer models let researchers copy the brain’s processes, and robots allow these models to be tested in real bodies interacting with real environments (2). The following examples illustrate how this approach is being used to explore increasingly sophisticated control problems, including predictive tracking, body coordination, navigation, and learning.

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Autism disproportionately affects boys. A new study offers a potential mechanism. Brain cells called microglia prune synaptic connections during early development. A specific genetic mutation affecting males led to enlarged microglia that had trouble performing that job.

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NOTE FROM TED: Please do not look to this talk for medical advice. This talk only represents the speaker’s personal views and understanding of aging which remains an emerging field of study. We’ve flagged this talk because it falls outside the content guidelines TED gives TEDx organizers. TEDx events are independently organized by volunteers. The guidelines we give TEDx organizers are described in more detail here: http://storage.ted.com/tedx/manuals/tedx_content_guidelines.pdf

Could we reverse epigenetic aging by re-growing the thymus? In the future, will it be possible to extend our lives or increase our longevity? Dr. Greg Fahy is a low-temperature biologist and investigator of aging intervention in humans. His first clinical trial, intended to reverse immune system aging, provided evidence that aging could be reversed in humans. Dr. Greg Fahy is a low-temperature biologist and investigator of aging intervention in humans. His first clinical trial, intended to reverse immune system aging, provided the first evidence that global aging can be reversed in humans. This talk was given at a TEDx event using the TED conference format but independently organized by a local community.

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A desirable option would be to use CRISPR gene editing to essentially cut out the unwanted gene. There are, however, many challenges ahead.

If you want to remove an undesirable gene from a population, you have a couple theoretical options — one that most people might find unthinkable, and one that lies outside our current scientific abilities.

The first involves locating a group of people without a particular gene and designing breeding programs around them. It would mean mating people in ways that society would consider incestuous. And we’ve seen the difficulties that result from that in the past — marriages between close relatives were a notorious cause of hemophilia in European royal families, for example.

A much more desirable option would be to use CRISPR gene editing to essentially cut out the unwanted gene. There are, however, many challenges ahead for such a strategy. Chief among them is the need to find mutations that, by themselves, are linked to particular diseases or disorders. And then we need guarantees that CRISPR will edit the correct genes.

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Researchers have used the gene-editing technique CRISPR to delete a segment of DNA associated with autism and schizophrenia from mouse brain cells.

The technique has only proven effective in mice so far but may eventually be suitable for treating brain conditions in people, says Xiao-hong Lu, assistant professor of pharmacology and neuroscience at Louisiana State University Health in Shreveport.

Unlike techniques used to manipulate DNA in the mouse brain, CRISPR can be applied to people. He says, “We need a tool to help us to carry the genetic elements into the [human] brain.”

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“We were very pleased to find out that even though life span is a very complicated trait caused by variation on a large number of loci, which is true for most complex traits, the number of loci that are in common is a totally finite number. So, we can imagine going on to the next stage and investigating one gene at a time and in combination,” Mackay said.

Scientists believe about 25 percent of the differences in human life span is determined by genetics—with the rest determined by environmental and lifestyle factors. But they don’t yet know all the genes that contribute to a long life.

A study published March 5, 2020, in PLOS Biology quantified variation in life span in the fruit fly genome, providing valuable insights for preserving health in elderly humans—an ever-increasing segment of the population. The paper titled “Context-dependent genetic architecture of Drosophila life span” is the culmination of a decade of research by Clemson University geneticists Trudy Mackay and Robert Anholt.

It remains difficult to address the for life span in humans, so researchers conduct their experiments with model systems. Mackay, the Self Family Endowed Chair of Human Genetics, is one of the world’s leading experts on the Drosophila melanogaster model (aka the common fruit fly), which is an excellent model for comparative analysis of human disease and aging. About 70 percent of the fruit fly genome has a human counterpart.

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