AI detects new class of genetic mutations behind autism

Agencies
May 30, 2019

Using Artificial Intelligence (AI), researchers have discovered new genetic flaws that contribute to autism in people.

Most previous research on the genetic basis of disease has focused on the 20,000 known genes and the surrounding sections of DNA that regulate those genes.

However, even this enormous amount of genetic information makes up only slightly more than one per cent of the 3.2 billion chemical pairs in the human genome.

The other 99 per cent has conventionally been thought of as "dark" or "junk," although recent research has begun to disrupt that idea.

In their new finding, detailed in the journal Nature Genetics, the research team offers a method to make sense of this vast array of genomic data.

The system uses an AI technique called deep learning in which an algorithm performs successive layers of analysis to learn about patterns that would otherwise be impossible to discern.

The algorithm teaches itself how to identify biologically relevant sections of DNA and predicts whether those snippets play a role in any of more than 2,000 protein interactions that are known to affect the regulation of genes.

"This method provides a framework for doing this analysis with any disease," said Olga Troyanskaya, Professor at Princeton University in the US.

The approach could be particularly helpful for neurological disorders, cancer, heart disease and many other conditions that have eluded efforts to identify genetic causes.

In the case of autism, the researchers analysed the genomes of 1,790 families with "simplex" autism spectrum disorder, meaning the condition is apparent in one child but not in other members of the family.

The method sorted among 120,000 mutations to find those that affect the behaviour of genes in people with autism.

Among this sample, fewer than 30 per cent of the people affected by autism spectrum disorder had a previously identified genetic cause.

The newly found mutations are likely to significantly increase that fraction, the researchers said.

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News Network
May 13,2020

California, May 13: A fasting-mimicking diet could be more effective at treating some types of cancer when combined with vitamin C, suggests a new study conducted by the scientists from USC and the IFOM Cancer Institute in Milan.

In studies on mice, researchers found that the combination delayed tumour progression in multiple mouse models of colorectal cancer; in some mice, it caused disease regression. The results were published in the journal Nature Communications.

"For the first time, we have demonstrated how a completely non-toxic intervention can effectively treat an aggressive cancer," said Valter Longo, the study senior author and the director of the USC Longevity Institute at the USC Leonard Davis School of Gerontology and professor of biological sciences at the USC Dornsife College of Letters, Arts and Sciences.

"We have taken two treatments that are studied extensively as interventions to delay ageing-- a fasting-mimicking diet and vitamin C -- and combined them as a powerful treatment for cancer," added Longo.

The researchers said that while fasting remains a challenging option for cancer patients, a safer, more feasible option is a low-calorie, plant-based diet that causes cells to respond as if the body were fasting.

Their findings suggest that a low-toxicity treatment of fasting-mimicking diet plus vitamin C has the potential to replace more toxic treatments.

Results of prior research on the cancer-fighting potential of vitamin C have been mixed. Recent studies, though, are beginning to show some efficacy, especially in combination with chemotherapy.

In this new study, the research team wanted to find out whether a fasting-mimicking diet could enhance the high-dose vitamin C tumour-fighting action by creating an environment that would be unsustainable for cancer cells but still safe for normal cells.

"Our first in vitro experiment showed remarkable effects. When used alone, fasting-mimicking diet or vitamin C alone reduced cancer cell growth and caused a minor increase in cancer cell death. But when used together, they had a dramatic effect, killing almost all cancerous cells," said Longo.

Longo and his colleagues detected this strong effect only in cancer cells that had a mutation that is regarded as one of the most challenging targets in cancer research.

These mutations in the KRAS gene signal the body is resisting most cancer-fighting treatments, and they reduce a patient's survival rate. KRAS mutations occur in approximately a quarter of all human cancers and are estimated to occur in up to half of all colorectal cancers.

The study also provided clues about why previous studies of vitamin C as a potential anticancer therapy showed limited efficacy. By itself, a vitamin C treatment appears to trigger the KRAS-mutated cells to protect cancer cells by increasing levels of ferritin, a protein that binds iron.

But by reducing levels of ferritin, the scientists managed to increase vitamin C's toxicity for the cancer cells. Amid this finding, the scientists also discovered that colorectal cancer patients with high levels of the iron-binding protein have a lower chance of survival.

"In this study, we observed how fasting-mimicking diet cycles are able to increase the effect of pharmacological doses of vitamin C against KRAS-mutated cancers," said Maira Di Tano, a study co-author at the IFOM, FIRC Institute of Molecular Oncology in Milan, Italy.

"This occurs through the regulation of the levels of iron and of the molecular mechanisms involved in oxidative stress. The results particularly pointed to a gene that regulates iron levels: heme-oxygenase-1," added Tano.

The research team's prior studies showed that fasting and a fasting-mimicking diet slow cancer's progression and make chemotherapy more effective in tumour cells while protecting normal cells from chemotherapy-associated side effects. The combination enhances the immune system's anti-tumour response in breast cancer and melanoma mouse models.

The scientists believe cancer will eventually be treated with low-toxicity drugs in a manner similar to how antibiotics are used to treat infections that kill particular bacteria, but which can be substituted by other drugs if the first is not effective.

To move toward that goal, they say they needed to first test two hypotheses: that their non-toxic combination interventions would work in mice, and that it would look promising for human clinical trials.

In this new study, they said that they've demonstrated both. At least five clinical trials, including one at USC on breast cancer and prostate cancer patients, are now investigating the effects of the fasting-mimicking diets in combination with different cancer-fighting drugs.

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Agencies
February 7,2020

Birmingham, Feb 7: According to a new study, social media users are more likely to eat healthy or junk food after getting influenced by their peer group.

The research published in the scientific journal 'Appetite' found that study participants ate an extra fifth of a portion of fruit and vegetables themselves for every portion they thought their social media peers ate. So, if they believed their friends got their 'five a day' of fruit and veg, they were likely to eat an extra portion themselves.

On the other hand, Facebook users were found to consume an extra portion of unhealthy snack foods and sugary drinks for every three portions they believed their online social circles did.
The findings suggested that people eat around a third more junk food if they think their friends also indulge in the same.

The Aston University researchers said the findings provide the first evidence to suggest our online social circles could be implicitly influencing our eating habits, with important implications for using 'nudge' techniques on social media to encourage healthy eating.

Researchers asked 369 university students to estimate the amount of fruit, vegetables, 'energy-dense snacks' and sugary drinks their Facebook peers consumed on a daily basis.

The information was cross-referenced with the participants' own actual eating habits and showed that those who felt their social circles 'approved' of eating junk food consumed significantly more themselves. Meanwhile, those who thought their friends ate a healthy diet ate more portions of fruit and veg. Their perceptions could have come from seeing friends' posts about the food and drink they consumed, or simply a general impression of their overall health.

There was no significant link between the participants' eating habits and their Body Mass Index (BMI), a standard measure of healthy weight, however. The researchers said the next stage of their work would track a participant group over time to see whether the influence of social media on eating habits had a longer-term impact on weight.

The most recent figures from the NHS's Health Survey for England showed that in 2018 only 28 percent of adults were eating the recommended five portions of fruit and vegetables per day. In Wales, this was 24 percent, in Scotland 22 percent and in Northern Ireland around 20 percent. Children and young people across the UK had even lower levels of fruit and veg consumption.

Aston University health psychology Ph.D. student Lily Hawkins, who led the study alongside supervisor Dr. Jason Thomas, said: "This study suggests we may be influenced by our social peers more than we realize when choosing certain foods. We seem to be subconsciously accounting for how others behave when making our own food choices. So if we believe our friends are eating plenty of fruit and veg we're more likely to eat fruit and veg ourselves. On the other hand, if we feel they're happy to consume lots of snacks and sugary drinks, it can give us a license to overeat foods that are bad for our health. The implication is that we can use social media as a tool to 'nudge' each other's eating behavior within friendship groups, and potentially use this knowledge as a tool for public health interventions."

"With children and young people spending a huge amount of time interacting with peers and influencers via social media, the important new findings from this study could help shape how we deliver interventions that help them adopt healthy eating habits from a young age and stick with them for life," said professor Claire Farrow.

A dietitian called Aisling Pigott further mentioned that "Research such as this demonstrates how we are influenced by online perceptions about how others eat. The promotion of positive health messages across social media, which are focused on promoting healthy choices and non-restrictive relationships with food and body, could nudge people into making positive decisions around the food they eat."

"We do have to be mindful of the importance of 'nudging' positive behaviors and not 'shaming' food choices on social media as a health intervention. We know that generating guilt around food is not particularly helpful when it comes to lifestyle change and maintenance," Aisling added.

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Agencies
April 4,2020

Washington D.C., Apr 4: While consuming a high-diet salt can result in high blood pressure, a recent study has revealed a link between salt-rich diet and weaker immune system.

The study was conducted under the leadership of the University Hospital Bonn, and the results were published in the journal Science Translational Medicine.

The research was conducted on mice that were fed a high-salt diet. Later, they were found to suffer from much more severe bacterial infections.

Human volunteers who consumed an additional six grams of salt per day also showed pronounced immune deficiencies.

The World Health Organization (WHO) has recommended a maximum amount of five grams of salt a day.

It corresponds approximately to one level teaspoon. In reality, however, many Germans exceed this limit considerably. 

Figures from the Robert Koch Institute suggest that on average men consume ten, and women more than eight grams a day.

This means that we reach for the salt shaker much more than is good for us. After all, sodium chloride, which is its chemical name, raises blood pressure and thereby increases the risk of heart attack or stroke.

"We have now been able to prove for the first time that excessive salt intake also significantly weakens an important arm of the immune system," said Prof. Dr. Christian Kurts from the Institute of Experimental Immunology at the University of Bonn.

This finding is unexpected, as some studies point in the opposite direction. For example, infections with certain skin parasites in laboratory animals heal significantly faster if these consume a high-salt diet.

The study also sheds light on the fact that the skin serves as a salt reservoir.

"Our results show that this generalization is not accurate," emphasized Katarzyna Jobin, lead author of the study.

The body keeps the salt concentration in the blood and in the various organs largely constant. Otherwise important biological processes would be impaired. The only major exception is the skin which functions as a salt reservoir of the body. This is why the additional intake of sodium chloride works so well for some skin diseases.

However, other parts of the body are not exposed to the additional salt consumed with food. Instead, it is filtered out by the kidneys and excreted in the urine.

"We examined volunteers who consumed six grams of salt in addition to their daily intake," said Prof. Kurts. This is roughly the amount contained in two fast-food meals, i.e. two burgers and two portions of French fries.

After one week, from the results, it showed that the immune cells coped much worse with bacteria after the test subjects had started to eat a high-salt diet.

In human volunteers, excessive salt intake also resulted in increased glucocorticoid levels.

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