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Sea invertebrate sheds light on evolution of human blood, immune systems -- ScienceDaily

"The mammalian and Botryllus blood-forming systems also share hundreds of homologous genes, even though the two species are separated by over 500 million years of evolution," said former postdoctoral scholar Benyamin Rosental, PhD. Rosental shares lead authorship of the study with graduate student Mark Kowarsky. The senior authors are Irving Weissman, MD, the Virginia and D.K. Ludwig Professor for Clinical Innovation in Cancer Research and professor of pathology and of developmental biology; Stephen Quake, PhD, the Lee Otterson Professor in the School of Engineering and professor of bioengineering and of applied physics; and senior research scientist Ayelet Voskoboynik, PhD. The researchers isolated the Botryllus stem cells that are the foundation of its blood and immune system, as well as the progenitor cells they make on their way to becoming adult blood and immune cells. "Out of all the invertebrates, the Botryllus blood stem cells and progenitors are the most similar to vertebrate blood cells, so it is possible, if not likely, that they are the 'missing link' between vertebrates and invertebrates," said Weissman, who also directs the Stanford Institute for Stem Cell Biology and Regenerative Medicine and the Ludwig Cancer Center at Stanford.

The link between cannabis use and psychotic-like experiences is largely the result of genetic factors

Karcher and her colleagues found that cannabis use was positively associated with psychotic-like experiences, even after controlling for a number of demographic variables and other substance use measures. But genetic factors accounted for 69.2% to 84.1% of the association. “The study indicates that the relationship between psychotic-like experiences and marijuana use is largely the result of shared genetics,” she explained to PsyPost.

Seeing and smelling food prepares the mouse liver for digestion -- ScienceDaily

A previous study published in Cell in 2015 by another team of researchers found that sensory perception of food by lab mice was enough to trigger the neural pathways normally fueled by eating. Specifically, perceiving food inhibited AgRP neurons, which stimulate appetite, and activated POMC neurons, which induce satiety and suppress eating. The new study built on that research, focusing on how the changes in these neural pathways sent signals that affected metabolic activities in the liver. Here, the researchers found that within five minutes of lab mice perceiving food, the changes in POMC neuron activity were enough to induce a rapid signaling cascade that activated the mTOR and xbp1 signaling pathways. These pathways are normally activated when the liver takes up amino acids from digested food and help increase the protein folding capacity of the endoplasmic reticulum (ER), which assembles proteins from the amino acids found in food.

What if the Placebo Effect Isn’t a Trick? - The New York Times

The subjects were randomly divided into four groups, following standard clinical-trial protocol, and received a daily dose of either vitamin E, aspirin, vitamin E with aspirin or a placebo. A subset also had their DNA sampled — which, Hall realized, offered her a vastly larger genetic database to plumb for markers correlated to placebo response. Analyzing the data amassed during the first 10 years of the study, Hall found that the women with the low-COMT gene variant had significantly higher rates of heart disease than women with the high-COMT variant, and that the risk was reduced for those low-COMT women who received the active treatments but not in those given placebos. Among high-COMT people, the results were the inverse: Women taking placebos had the lowest rates of disease; people in the treatment arms had an increased risk.

Genetic risk factor for CTE detected: Findings may offer insight into how the disease occurs -- ScienceDaily

Researchers from Boston University School of Medicine (BUSM) and the VA Boston Healthcare System (VABHS) studied 86 former contact-sport athletes whose brains were donated to the VA-BU-CLF brain bank and found to have evidence of CTE, but no other pathology. The athlete brains were examined for genetic variation in TMEM106B, a gene thought to be involved in the brain's inflammation system. Overall, the genetic variation was not different in those with CTE compared to those without. "However, among the athletes with CTE, variation did predict increased CTE pathology and brain inflammation. Additionally, the risk allele increased the likelihood of developing dementia by 2.5 times suggesting the variant might predict an increased risk for developing the symptoms of CTE," explained first author Jonathan Cherry, PhD, postdoctoral fellow in neurology at BUSM.

Review reveals ambiguous understanding of genetic privacy in US study participants: Privacy often conflated with confidentiality, control, and security -- ScienceDaily

Participants were frequently concerned about the amount of control they retained over their personal information, the use of their data by third parties, and confidentiality issues. Many were worried they could be harmed if genetic information was divulged to third parties like employers or insurers. However, participants often felt benefits such as getting information from genetic tests were more important than protecting privacy.

Just a few drinks can change how memories are formed -- ScienceDaily

One of the downstream dominos in the signaling pathway affected by alcohol is a gene called dopamine-2-like receptor, which makes a protein on neurons that recognizes dopamine, the "feel-good" neurotransmitter. "The dopamine-2-like receptor is known to be involved in encoding whether a memory is pleasing or aversive," Petruccelli said. And alcohol hijacks this conserved memory pathway to form cravings. In the case of the alcohol reward pathway studied, the signaling cascade didn't turn the dopamine receptor gene on or off, or increase or decrease the amount of protein made, Kaun said. Instead, it had a subtler effect -- it changed the version of the protein made by a single amino acid "letter" in an important area. "We don't know what the biological consequences of that small change are, but one of the important findings from this study is that scientists need to look not only at which genes are being turned on and off, but which forms of each gene are getting turned on and off," Kaun said. "We think these results are highly likely to translate to other forms of addiction, but nobody has investigated that."

Dads' Nicotine Use May Cause Cognitive Problems for Children and Grandchildren - Neuroscience News

Analysis of spermatozoa from the original nicotine-exposed males indicated that promoter regions of multiple genes had been epigenetically modified, including the dopamine D2 gene, critical for brain development and learning, suggesting that these modifications likely contributed to the cognitive deficits in the descendants.

Microbiome test

It’s based on more than five years of highly cited research at Israel’s Weizmann Institute, showing, for example, that while people on average respond similarly to white bread versus whole grain sourdough bread, the differences between individuals can be huge: what’s good for one specific person may be bad for another.

How a single binge drinking episode affects gene that regulates sleep: Discovery explains alcohol's link to brain activity, sleep disturbances -- ScienceDaily

Using a mouse model, Thakkar monitored the effect of binge drinking on sleep patterns. Thakkar found mice exposed to binge drinking experienced a significant increase in non-rapid eye movement sleep four hours post-binge, followed by increased wakefulness and reduced sleep during subsequent sleep periods. Thakkar also discovered post-binge mice did not experience an increase in a sleep promoting chemical, adenosine, in the brain nor increased sleep pressure during sleep deprivation. The research also revealed binge alcohol consumption affects the gene that regulates sleep, resulting in sleep disturbances. "What we have shown in this research is that a particular gene -- which is very important for sleep homeostasis -- is altered by just one session of binge drinking," Thakkar said. "We were not expecting this. We thought it would be affected after multiple sessions of binge drinking, not one. That tells you that as soon as you consume four drinks, it can alter your genes."

Boosting the effects of vitamin D to tackle diabetes -- ScienceDaily

The underlying process has to do with transcription -- the way that genes are translated into proteins. Combining the new compound with vitamin D allowed certain protective genes to be expressed at much higher levels than they are in diseased cells. "Activating the vitamin D receptor can trigger the anti-inflammatory function of genes to help cells survive under stressed conditions," says Michael Downes, a Salk senior staff scientist and co-corresponding author. "By using a screening system that we developed in the lab, we've been able to identify an important piece of that puzzle that allows for super-activation of the Vitamin D pathway."

Pharma’s broken business model — Part 2: Scraping the barrel in drug discovery – Endpoints News

Ac­cord­ing to the Human Pro­tein Atlas, there are 19,613 pro­teins en­coded by the human genome.  Of these, 14,545 (74%) have no known link or re­la­tion­ship with dis­ease, which rules them out as po­ten­tial new drug tar­gets be­cause they fail to meet cri­te­rion 1 above.  Per­haps these pro­teins are non-es­sen­tial, as any de­fi­cien­cies can be com­pen­sated by other pro­teins or path­ways; or per­haps they are es­sen­tial, how­ever any de­fi­cien­cies are lethal be­fore birth so they never have the chance to cause any dis­ease.  In any case, we have no rea­son to be­lieve that tar­get­ing these pro­teins will do any­thing for any known human dis­ease. Now of the 5,068 pro­teins that have any link to dis­ease, 3,131 (16% of all human pro­teins) are con­sid­ered to be “un­drug­gable”, ei­ther be­cause they have no ob­vi­ous pocket ca­pa­ble of bind­ing small mol­e­cule drugs, or be­cause they are in­tra­cel­lu­lar and thus in­ac­ces­si­ble to large pro­teins that can­not pen­e­trate the cell mem­brane.  We must rule out these pro­teins as po­ten­tial new drug tar­gets be­cause we cur­rently have no way to tar­get them, so they fail to meet cri­te­rion 2 above.

Circadian system

Circadian clock research has been ongoing for many decades and has led to the discovery of molecular mechanisms controlling the circadian rhythm, which was awarded the 2017 Nobel Prize in Physiology or Medicine. Almost all of the cells in our body contain a circadian clock and are mainly controlled by a central circadian pacemaker, located in the hypothalamus of the brain. The circadian clocks contained in most tissues and cells are driven by transcriptional-translational feedback loops composed of circadian clock genes and proteins.

'Mono' virus linked to 7 serious diseases: Epstein-Barr virus may affect health in more ways than known -- ScienceDaily

The new paper shows that seven seemingly unrelated disease states actually share a common set of abnormal transcription factors, each affected by the EBNA2 protein from the Epstein-Barr virus. When these EBNA2-related clusters of transcription factors attach themselves to one portion of the genetic code, the risk of lupus appears to rise. When those same transcription factors land on another part of the code, the risk of multiple sclerosis appears to rise. And so on. "Normally, we think of the transcription factors that regulate human gene expression as being human," Kottyan says. "But in this case, when this virus infects cells, the virus makes its own transcription factors, and those sit on the human genome at lupus risk variants (and at the variants for other diseases) and that's what we suspect is increasing risk for the disease."

Does physical activity influence the health of future offspring? Study finds an intergenerational benefit -- ScienceDaily

When Fischer and co-workers exposed mice to a stimulating environment in which they had plenty of exercise, their offspring also benefited: compared to the mice of a control group, they achieved better results in tests that evaluate learning ability.

Three genes essential for cells to tell time -- ScienceDaily

"Many researchers in this field have long suspected oxidative stress and circadian rhythms are somehow connected because of the cycles of photosynthesis and DNA replication we see even in ancient organisms; photosynthesis requires sunlight and creates free radicals that could damage DNA, so cells postpone DNA replication and cell division until nighttime when photosynthesis has stopped. We are very excited about our results because we can approach the origin of the circadian clock by connecting oxidative stress and circadian regulation through the Ask genes," said Fukada.

Gene mutation helps explain night owl behavior

Night owls are often diagnosed at sleep clinics with delayed sleep phase disorder (DSPD). This study is the first to implicate a gene mutation in the development of DSPD, which affects up to 10% of the public, according to clinical studies. People with DSPD often struggle to fall asleep at night, and sometimes sleep comes so late that it fractures into a series of long naps. DSPD and other sleep disorders are associated with anxiety, depression, cardiovascular disease, and diabetes. People with DSPD also have trouble conforming to societal expectations and morning work schedules. "It's as if these people have perpetual jet lag, moving eastward every day," says Young. "In the morning, they're not ready for the next day to arrive." Patke is a night owl and usually works late into the night. She, however, does not carry the CRY1 variant. Not all cases of DSPD are attributable to this gene mutation. However, Young and Patke found it in 1 in 75 of individuals of non-Finnish, European ancestry in a gene database search. "Our variant has an effect on a large fraction of the population," she says. Young, who has studied the genes involved in the circadian clock of the fruit fly, connected with clinical researchers at the Weill Cornell Medical College to understand the molecular underpinnings of human sleep disorders. By studying the skin cells of people with DSPD, he and Patke discovered a mutation in CRY1, which helps drive the circadian clock. The circadian clock is a fundamental element of life on Earth and has remained more or less the same, genetically, throughout the evolution of animals. "It's basically the same clock from flies to humans," Young says. Normally the clock begins its cycle by building up proteins, call activators, in a cell. These activators produce their own inhibitors that, over time, cause the activators to lose their potency. When all the activators in the cell have been silenced, inhibitors are no longer produced and eventually degrade. Once they've all gone, the potency of the activators surges, and the cycle begins again. The CRY1 protein is one of the clock's inhibitors. The mutation Young and Patke found is a single-point mutation in the CRY1 gene, meaning just one letter in its genetic instructions is incorrect. Yet this change causes a chunk of the gene's resulting protein to be missing. That alteration causes the inhibitor to be overly active, prolonging the time that the activators are suppressed and stretching the daily cycle by half an hour or more. In addition to their initial study of a multigenerational family in the U.S., Young and Patke collaborated with clinical researchers at Bilkent University to analyze the sleep patterns of six families of Turkish individuals, 39 carriers of the CRY1 variant and 31 non-carriers. The carriers had delayed sleep onset times and some had fractured, irregular sleep patterns. The mid-point of sleep for non-carriers was about 4 a. m. But for carriers, the mid-point was shifted to 6-8 a.m. Because the mutation does not disable the protein, it can have an effect on individuals whether they carry one or two copies of the gene. Of the 39 Turkish carriers studied, 8 had inherited the mutation from both parents, and 31 had inherited only one copy of the mutation. The circadian clock responds to external environmental cues, so it is possible for people to manage the effects of the mutation on sleep. For instance, one carrier in the study reported maintaining a sleep routine through self-enforced regular sleep and wake times and exposure to bright light during the day. "An external cycle and good sleep hygiene can help force a slow-running clock to accommodate a 24-hour day," says Patke. "We just have to work harder at it."

Are your muscles genetically prepared to run a marathon? The way is open for the use of genetics in training -- ScienceDaily

Specialists focussed on seven genes related to muscle function in 71 experienced marathon runners, who underwent blood tests before and after the competition and measurements of the power of the vertical jump and muscle perception. Every gene was assigned a score, based on previous studies, where 0 indicated that the polymorphism of this gene did not create a muscular advantage for running a marathon, 1 meant a standard level and 2 indicated that the polymorphism of the gene conferred positive properties for bearing this effort through muscles. As such, runners with a high score -the maximum was 14 points- had good muscle genetics to bear the muscle demands of the marathon, while a low score indicated the opposite. The results were conclusive: runners with a higher genetic score had lower levels of creatine kinase and myoglobin in their blood, that is, less damage to muscle fibres, compared to marathon runners with a less favourable score. This research opens the way for the use of genetics in training. "In the near future, marathon runners may be able to measure their genetic profile to know how prepared they are for competing in a marathon and in other resistance tests," highlighted Del Coso.

Blue-eyed humans have a single, common ancestor -- ScienceDaily

"Originally, we all had brown eyes," said Professor Hans Eiberg from the Department of Cellular and Molecular Medicine. "But a genetic mutation affecting the OCA2 gene in our chromosomes resulted in the creation of a "switch," which literally "turned off" the ability to produce brown eyes." The OCA2 gene codes for the so-called P protein, which is involved in the production of melanin, the pigment that gives colour to our hair, eyes and skin. The "switch," which is located in the gene adjacent to OCA2 does not, however, turn off the gene entirely, but rather limits its action to reducing the production of melanin in the iris -- effectively "diluting" brown eyes to blue. The switch's effect on OCA2 is very specific therefore. If the OCA2 gene had been completely destroyed or turned off, human beings would be without melanin in their hair, eyes or skin colour -- a condition known as albinism.

Practice Doesn’t Make Perfect - The New Yorker

In one study, for instance, Hambrick looked at pianists and measured their working memory, or the ability to keep chunks of information in mind and accessible for short periods of time. In the past, working-memory capacity has been found to be heritable. In his sample, it predicted success even when you accounted for the effects of practice; pianists with better working memory were better at sight reading—and increased practice did not alter the effect. When he looked back to one of the most frequently studied groups in expertise research, chess players, he found that, in addition to working or short-term memory, three more components of cognitive ability—fluid reasoning, comprehension knowledge, and processing speed, all abilities that are, to some extent, heritable—were related to performance. This was especially true of younger and less experienced players. If you’re naturally better, you don’t have to practice quite as much to get good.

35% of brain activity related to anxiety is heritable

An over-active network of brain areas is central to how children inherit anxiety and depression from their parents. The network consists of three regions in the brain which work together to control the fear-response. Genes passed down from parents to children influence how these three regions function together, the new study finds.

Research shows certain genes, in healthy environments, can lengthen lifespan -- ScienceDaily

The researchers found that the dopamine D2 receptor gene (D2R) significantly influences lifespan, body weight and locomotor activity, but only when combined with an enriched environment that included social interaction, sensory and cognitive stimulation and, most critically, exercise.

Scientists eliminate core symptom of schizophrenia in mice: Team uses chemical compound to restore affected brain regions; findings could lead to new treatment strategies -- ScienceDaily

"Schizophrenia affects about one in every 100 people, but for those with a 22q11.2 microdeletion, that chance jumps to one in three," said Dr. Gogos. "22q11.2 microdeletions remain the single greatest genetic risk factor for developing schizophrenia. This is why our model has proved invaluable in allowing us to trace schizophrenia back to its beginnings."

Study of Holocaust survivors finds trauma passed on to children's genes | Science | The Guardian

The team were specifically interested in one region of a gene associated with the regulation of stress hormones, which is known to be affected by trauma. “It makes sense to look at this gene,” said Yehuda. “If there’s a transmitted effect of trauma, it would be in a stress-related gene that shapes the way we cope with our environment.” They found epigenetic tags on the very same part of this gene in both the Holocaust survivors and their offspring, the same correlation was not found in any of the control group and their children.

Important associations between genetics, sleep behavior identified by study -- ScienceDaily

The focus of the CPMC paper was to identify the genes associated with sleep duration and validate the connection between sleep and several demographic and lifestyle factors, including age, gender, weight, ethnicity, exercise, smoking and alcohol. Analysis implicated genes involved in ATP metabolism, circadian rhythms, narcolepsy, sleep cycles in mice, and bear hibernation.

Changes in brain connectivity protect against developing bipolar disorder -- ScienceDaily

"The ability of the siblings to rewire their brain networks means they have adaptive neuroplasticity that may help them avoid the disease even though they still carry the genetic scar of bipolar disorder when they process emotional information," said Sophia Frangou, MD, PhD, Professor of Psychiatry at the Icahn School of Medicine at Mount Sinai and lead author of the study. Dr. Frangou's ongoing research uses neuroimaging to study how differences in brain wiring can either increase or decrease the likelihood of developing mental health problems.