How your genes may be giving you the giggles

Next time you find yourself with an uncontrollable urge to laugh, you can thank your parents.  

Researchers at UC Berkeley and Northwestern University have found that a gene involved in the regulation of serotonin makes some of us more prone to spontaneous smiles and bursts of laughter.

And this “giggle gene” is the same one that is also associated with marital bliss or blues.

Specifically, researchers looked at two versions of the gene variant, or “allele” known as 5-HTTLPR, and found that people with the short version were more likely to smile and laugh while looking at cartoons and funny clips from the movie Strangers in Paradise.

They found that people with the short allele displayed a more genuine smile and laugh than people with the long allele.

While previous research have found that people with the short variant were more vulnerable to depression and anxiety, this study also shows that they are more responsive to the emotional highs of life as well.

“Having the short allele is not bad or risky,” said Dr. Claudia Haase of Northwestern University, coauthor of the study. “Instead, the short allele amplifies emotional reactions to both good and bad environments.“

Learn more about the giggling gene

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The emotional sensitivity gene

Serotonin is one of the major neurotransmitters (i.e. chemicals) in the brain. It’s very connected to our emotions and so it’s not a coincidence that a lot of the drugs that are used to treat depression and anxiety act on the serotonin system in the brain. This is clearly a very important chemical for determining the nature of our emotional lives.

The serotonin transporter gene regulates serotonin in the brain. People are born with variations of this gene. The long variation clears serotonin out of the neural synapse more efficiently. The short variation is less efficient, which lets the serotonin hang around a little bit longer in the synapse. 

The short variation was originally considered a risk gene — but it’s now being thought of as a sensitivity gene.

Learn more about how the gene impacts our emotional responses →

Scientists Discover That Eyes Are Windows To The Soul

The eye is the window to the universe, and some would say they are also windows to the soul… We have heard this phrase get passed around before: “The eyes are the windows of the soul”. People usually say this when they can see pain, anger, or some other emotion in somebody else’s eyes.  But recent research gives a whole new meaning to this phrase.  Eyes not only windows to emotions, they are windows to the soul.

How? The answer has to do with the actual eyeball itself.  Everyone has a different structure of lines, dots and colors within the iris of their eye.  Some people may have similar eye color to each other, but the lines and dots on the iris are as unique as a fingerprint.

Although they vary from person to person, there are certain patterns contained within the iris which are widespread, and scientists at Orebro University in Sweden wanted to see if these patterns correlated with specific personality traits.

They focused on patterns in crypts (threads which radiate from the pupil) and contraction furrows (lines curving around the outer edge) which are formed when the pupils dilate.  The studied the eyes of 428 subjects to see if the crypts patters and contraction furrows reflected their character traits.

What they found

Their findings showed those with densely packed crypts are more warmhearted, tender, trusting, and likely to sympathize with others.  In comparison, those with more contraction furrows were more neurotic, impulsive and likely to give way to cravings.

It’s crazy to think how the markings on a person’s eyeball can reveal the most deep-rooted character traits of an individual.

There was an extremely strong correlation between a person’s iris and their personality traits.  But correlation does not imply causation right? Right. But it appears as though both eye detail and a person’s character traits may be caused by the same thing.

The researchers said that eye structure and personality could be linked because the gene sequences responsible for developing the structure of the iris also contribute to the development of the frontal lobe of our brain, which is the motherboard of our personality.

“‘Our results suggest people with different iris features tend to develop along different personality lines,’ said Matt Larsson, a behavioural scientist who led the study at Orebro University.  ‘These findings support the notion that people with different iris configurations tend to develop along different trajectories in regards to personality.  Differences in the iris can be used as a biomarker that reflects differences between people.’”

The scientists also mentioned something very interesting about a gene called PAX6, which controls the formation of the eye in the early stages of embryonic development.  Research has shown that mutation of the gene results in poor social skills, impulsiveness, and poor communication skills.

Eye color reveals even more

According to researchers at Pittsburgh University, women with lighter colored eyes experience less pain during childbirth compared to women with darker eyes. People with lighter eyes also consume significantly more alcohol, as darker eyed people require less alcohol to become intoxicated.

The reason boils down to genes. A senior lecturer in biomolecular sciences at Liverpool John Moores University said, “What we know now is that eye color is based on 12 to 13 individual variations in people’s genes… These genes do other things in the body.”

Take melanin, the pigment that makes eyes darker. Melanin may also makes people more susceptible to alcohol. When psychologists at Georgia State University in Atlanta surveyed more than 12,000 men and women, they found those with light eyes consumed significantly more alcohol than those with dark eyes. The reason brown-eyed people may drink less – and also be less likely to be alcoholics – is because they need less alcohol to become intoxicated.

Melanin not only determines eye darkness, it’s also an insulator for the electrical connections between brain cells. The more melanin in the brain, the more efficiently, sensitively and faster the brain can work, the researchers reported in the journal Personality and Individual Differences.  So the chemical responsible for eye darkness is also responsible for brain efficiency.

Eyes are literally the windows to the inner most aspects of our personality and character traits.  If you look into someones eyes, you can easily tell if they are scared, sad, or worn down inside.  But if you look even closer, you will also be able to see what kind of psychology and personality that person has.  Eyes are literally a window into people’s souls.

By: Steven Bancarz

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View the TED-Ed Lesson Where do genes come from?

When life emerged on Earth about 4 billion years ago, the earliest microbes had a set of basic genes that succeeded in keeping them alive. In the age of humans and other large organisms, there are a lot more genes to go around. Where did all of those new genes come from? Carl Zimmer examines the mutation and multiplication of genes.

Listening to classical music modulates genes that are responsible for brain functions

Although listening to music is common in all societies, the biological determinants of listening to music are largely unknown. According to a latest study, listening to classical music enhanced the activity of genes involved in dopamine secretion and transport, synaptic neurotransmission, learning and memory, and down-regulated the genes mediating neurodegeneration. Several of the up-regulated genes were known to be responsible for song learning and singing in songbirds, suggesting a common evolutionary background of sound perception across species.

Listening to music represents a complex cognitive function of the human brain, which is known to induce several neuronal and physiological changes. However, the molecular background underlying the effects of listening to music is largely unknown. A Finnish study group has investigated how listening to classical music affected the gene expression profiles of both musically experienced and inexperienced participants. All the participants listened to W.A. Mozart’s violin concert Nr 3, G-major, K.216 that lasts 20 minutes.

Listening to music enhanced the activity of genes involved in dopamine secretion and transport, synaptic function, learning and memory. One of the most up-regulated genes, synuclein-alpha (SNCA) is a known risk gene for Parkinson’s disease that is located in the strongest linkage region of musical aptitude. SNCA is also known to contribute to song learning in songbirds.

“The up-regulation of several genes that are known to be responsible for song learning and singing in songbirds suggest a shared evolutionary background of sound perception between vocalizing birds and humans”, says Dr. Irma Järvelä, the leader of the study.

In contrast, listening to music down-regulated genes that are associated with neurodegeneration, referring to a neuroprotective role of music.

“The effect was only detectable in musically experienced participants, suggesting the importance of familiarity and experience in mediating music-induced effects”, researchers remark.

The findings give new information about the molecular genetic background of music perception and evolution, and may give further insights about the molecular mechanisms underlying music therapy.

Five Discoveries Taking Science By Surprise:

1 | Lifestyle can change genes

We have come to think that if something is “in our genes”, it is our inevitable destiny. However, this is a gross oversimplification. We have each inherited a particular set of genes, but the outcome of that inheritance is not fixed. Our environment, diet and circumstance flood our bodies with molecules that switch the genes on or off. The result can make a huge difference to our destiny – and that of our descendants.

One example of these “epigenetic” changes occurs when a bundle of carbon and hydrogen atoms known as a methyl group attaches itself to the DNA and changes the way its instructions are carried out. The degree of the effect depends on the exact shapes into which the DNA in cells is coiled; sometimes certain genes become more or less exposed to external influences. But it can have major effects: the effect of methyl groups on DNA can make the difference between a foetus being healthy or stillborn.

Methyl groups often come from what we eat. Lack of food seems to have an epigenetic effect, too. A study of Dutch women starved by the Nazis during the second world war – the British actress Audrey Hepburn was among them – has found elevated levels of schizophrenia, breast cancer and heart disease. The data suggest that the alterations to which genes are turned on or off survive at least two generations: the one that suffered in the womb during the famine, and their children.

They may go much further. A 2011 study published by researchers at the Salk Institute in La Jolla, California, demonstrated epigenetic mutations that lasted for at least 30 generations in plants. So far, we haven’t proved such long-term changes in humans but there are hints that epigenetics cascades through the generations.

A 2001 study traced the long-term effects of nutrition – and malnutrition. Controlling for socioeconomic factors, a boy approaching puberty who overate at the beginning of the last century generally reduced his grandson’s life expectancy by a whopping 32 years. Other studies show that if boys start smoking before the age of 11 their sons will be significantly more overweight by age nine than their peers with fathers who only took up smoking later. The only way this can happen is if the act of smoking tobacco triggers some epigenetic change in the way DNA is activated in their sperm.

Standard biological thinking says that the body strips away molecules such as a methyl group from sperm and eggs so that they are “reset” to their default state. However, a study published by Cambridge researchers last year showed that approximately 1% of the changes get through the erasure process unscathed. What you eat, what your mother ate, the age when your grandfather started smoking, the amount of pollution in your neighbourhood – these factors have all been linked to epigenetic changes that get passed down through the generations. Armed with this new insight, we can take far more control of our health – and the health of future generations.

2 | The mind can affect the body

Positive thinking: the state of our mind affects our physical health. Photograph: Alamy

The US National Oceanographic and Atmospheric Administration has a piece of advice for anyone trying to survive immersion in freezing cold water: “Keep a positive attitude. Will to live makes a difference.” Does it really? It seems so.

We know that simple mind tricks can suppress the immune system in animals. First, you teach rats to associate saccharine with a stomach upset by spiking sweet drinks with a drug called cyclophosphamide. Then you just give them saccharine. They will be significantly more susceptible to pathogens than animals given saccharine but no conditioning.

Humans are not exempt from mind-immune system connections. Research carried out on 4,000 people over a 12-year period showed that a man whose wife has just died had a 25% higher chance of dying in those 12 years. The bereaved reported heart and circulatory problems twice as often as people in the control group.

In 2010 a study conducted in the US enumerated the dangers of loneliness. If you have “adequate” social connections, you are 50% more likely to live to the end of a specified period than those who are lonely. In other words, the effect of having good friends is roughly similar to giving up smoking or making a significant cut to your intake of alcohol. A 2012 study, which followed 2,000 US citizens aged 50 and above, found that being chronically lonely was associated with being almost twice as likely to die over the period of the study. Another 2012 study found that elderly people who simply want to live longer do indeed have a better life expectancy regardless of their physical health at the time their desire is expressed.

What used to be dismissed by science as superstition or old wives’ tales is now coming to the fore. The state of our minds has a palpable effect on our bodies, meaning that we are finally learning how to protect ourselves better from the worst ravages of illness.

Such knowledge is improving our state of mind too. In 2011 Hasse Karlsson, professor of psychiatry at the University of Helsinki, looked at 20 studies of brain changes induced by psychotherapy and concluded that we are moving towards a situation where we know so much about what psychotherapy does – how our subjective experience can be manipulated to change the physical structures of the brain – that specific types of psychotherapy can be used to target particular brain circuits. As Nobel laureate Eric Kandel has put it: “Psychotherapy is a biological treatment, a brain therapy.”

Sigmund Freud started this field in 1895. However, his “Project for a Scientific Psychology” was a miserable failure because we knew too little about the brain. Now, though, we have much better tools with which to explore the mind’s effect on the body, and Freud’s abandoned programme is finally bearing fruit.

3 | Quantum effects exist in biology

Plants use quantum theory to harvest energy from the sun. Photograph: Power & Syred/SPL

If you were designing life from scratch, you’d probably want to avoid the vagaries of quantum theory. Quantum particles such as atoms and electrons do strange things. They can be in two different places at once, or be affected by measurements performed on other particles. Surely such things could only be a hindrance to the smooth functioning of life’s processes?

That’s certainly what the physicist Erwin Schrödinger said in 1944. Life, he decided, had to be built on a scale that would bury all the weird quantum effects. But Schrödinger was wrong. Plants, for instance, use quantum theory to harvest energy from the sun.

Experiments performed on algae (their light-harvesting equipment is a little more accessible to experiments) have shown that they can channel the sun’s energy using “superposition”, where the energy travels through the organism using many paths at once. This trick effectively searches all possible paths simultaneously, and finds the quickest and thus most energy-efficient route. That means the energy reaches the plant’s storage centre before it dissipates.

There are also hints that smell is a quantum sense. Our noses appear to work by sensing the natural vibration frequencies of the bonds between atoms in molecules. Those frequencies determine whether a smell receptor is switched on and sends a signal to the brain. The best explanation for experimental observations involves an electron using a phenomenon known as quantum uncertainty to tunnel through a seemingly impenetrable barrier. Essentially, it borrows energy from the universe in order to leap across an empty space in the smell receptors and trigger the brain’s sense of smell. As long as it returns the energy quickly enough, the electron can use as much as it needs. This “quantum tunnelling” phenomenon is also at the heart of modern electronics.“

Then there’s the navigation trick birds use for migration. Studies of the European robin (and the robin had to wear a cute little eyepatch during this research) suggest that a particular configuration of a molecule in the robin’s retina – a configuration that can only be explained by the rules of quantum theory – allows the bird to sense Earth’s magnetic field and thus determine the direction in which it should fly.

We don’t know what other quantum feats nature performs, but the fact that these things happen in the warm, wet world of biological material suggests that we are missing a trick. At the moment, we can only access the quantum world if we cool atoms and molecules down to near absolute zero and isolate them from all vibrations and other disturbances. If we can work out how nature functions without such precautions, we might be able to harness quantum theory for ourselves, creating highly efficient solar panels, for instance, or super-sensitive navigation tools.

4 | The universe is a computer (and we are the programmers)

The study of black holes has led scientists to question the very nature of reality. Photograph: Nasa

At the forefront of knowledge – the place geneticist Jacob Bronowski once referred to as "the edge of uncertainty” – the biggest thinkers are starting to come to terms with an extraordinary idea. The universe, they say, behaves exactly like a computer, processing and generating information. In this scenario, we, by our conscious and unconscious actions, are playing the role of that computer’s programmers.

The first person to think of the cosmos as a human-powered computer was science-fiction author Isaac Asimov. In 1956, in The Last Question, he imagined a situation where two people engage in a bet that ends with humanity absorbed into the intelligent processor that we know as the universe. This was the inspiration behind Douglas Adams’s depiction of the Earth as a supercomputer in The Hitchhiker’s Guide to the Galaxy.

Truth, though, seems to be stranger than fiction. In the past few years, MIT engineer Seth Lloyd has calculated that a single atom can carry 20 binary digits (bits) of information and that two atoms can collide with an outcome that is entirely equivalent to the information processing that goes on within a computer. The concentration of chemicals within a mix can also store bits: cause these chemicals to react together, and they too can process the information like a computer. Viewed from this perspective, the whole universe is busy performing computations.

According to Lloyd’s calculations, a kilogram of matter can perform around a million billion billion billion billion billion operations every second. That processing power is applied to about 10 thousand billion billion billion bits of information. Since time began, Lloyd has calculated, the universe has performed around 10 to the power of 122 operations on 10 to the power of 92 binary digits. What are those operations? We see them as chemistry and physics, as the processes of life and the mechanisms of thought.

There are many more implications to this branch of science – it appears, for instance, that what we call reality is actually a projection of information held at the edge of the universe. The conclusion comes from the study of black holes. One of the sacred laws of physics is that information can’t be destroyed. That’s a problem when you consider the information contained in things that fall into black holes – unless it remains at the event horizon, which is the spherical “point of no return” surrounding a black hole. That means all the information about what’s inside the black hole is held at its edge. If that’s true for black holes, it’s probably true for the universe as a whole. And that means we are effectively the “holographic projection” of the information held on the spherical shell of the universe.

Whatever the truth we eventually settle on, it seems that life does have some meaning. Where scientists used to say we live out a purposeless existence, it turns out that we, by our actions and minds, are programming the universe. Or, as Carl Sagan put it: “We are a way for the universe to know itself.”

5 | Human beings are nothing special

Humans are not the only animals that use tools or have personality types. Photograph: Tim Gainey/Alamy

We have been taught to think of ourselves as the pinnacle of creation, but that pinnacle is getting rather crowded. In many cases, crows and chimps can use tools – and sometimes abstract reasoning – better than humans. If it’s culture that makes you feel superior, visit the Tanzanian Gombe chimps, Canadian killer whale communities or Australian dolphins: they all show distinct cultural practices in the way they relate with one another, hunt or sing. Animals show personality and morality – elephants can be empathetic or insensitive, rats can be lovers of fair play, spiders can be bold or spineless, chipmunks can be extrovert or shy. Cockroaches have feelings, too, it turns out.

Even the hard facts are letting us down: at the moment, researchers know of only a handful of genes unique to humans; it’s thought that, when the count is finished and the numbers are totted up, fewer than 20 of our 20,000 genes will be exclusively human.

It’s ironic that biology’s love of hard facts is what has delayed our discoveries about the things we share with animals. Darwin was quite convinced of animal personality, compassion and feelings. However, the 1882 publication of George Romanes’s book Animal Intelligence, a schmaltzy anthology of readers’ tales and anecdotes, sent scientists running from the subject, and it became taboo for nearly a century. That is why Jane Goodall suffered endless insults and derision for her assertions that chimps did not all behave the same way, and that they exhibited moods and personalities, went through childhood and adolescence and grieved at the deaths of their relatives.

One thing does set us apart: our linguistic abilities. These, however, are a quirk of evolution. Although nothing in the animal kingdom is using what we think of as language, gestures used by bonobos and orangutans come close. The fact that we have slightly different anatomical arrangements that allow us to speak is hardly a marker of a fundamental difference.

So we are top of the class, perhaps, but not in a class of our own. This understanding should lead us to re-examine the relationship we have with animals. It is already becoming clear that their personalities affect their ability to survive habitat change. A 2004 study of the three-spined stickleback found that the chemical ethinyl estradiol, which is contained in birth-control pills and has been found in significant concentrations in waterways around the world, makes female sticklebacks exhibit more risky behaviour. The result is lower survival times compared with those in unpolluted waters.

Our responsibility goes beyond habitat pollution and destruction. Our discoveries mean we are already changing the way (and extent to which) we experiment on animals. The next step may be more far‑reaching: how comfortable would we be, for instance, eating a lobster that we knew was terrified by its capture?

Listening to classical music enhanced the activity of genes that are mainly related to reward and pleasure, cognitive functions and proper brain function. Some of the findings of this study may explain the molecular mechanisms underlying music therapy.
— 

Chakravarthi Kanduri, Computational Biology Researcher at the University of Helsinki

Music can change your genes — and that’s huge for just about everyone

Gene therapy works in cystic fibrosis for the first time

by Penny Sarchet

And… breathe. Twenty six years after the gene responsible for cystic fibrosis was identified, researchers have shown that people with the lung-damaging condition can benefit from gene therapy.

The improvement on lung function is small – just 3.7 per cent compared with a placebo group – but it validates the decades that researchers have spent trying to find a way to put healthy copies of the faulty gene into the lung cells of people with cystic fibrosis.

One of the world’s most common genetic diseases, cystic fibrosis affects about 70,000 people worldwide. Mutations in a single gene – CFTR – cause problems around the body, but particularly in the lungs. People with cystic fibrosis produce thick, sticky mucus, which clogs up the organ and makes it a breeding ground for harmful bacteria.

Despite gruelling physiotherapy regimes to dislodge the mucus and regular antibiotic treatments, the lung function of people with cystic fibrosis steadily gets worse. Around half of those in the UK who have the disease are expected to die at the age of 41 or younger.

Continue Reading.

22 May 2015

Better Make-up?

Our genes define almost everything about us – the good and the bad. If you could alter your genes to prevent an illness, would you? Recently a research team in China has managed to do exactly that. β-thalassaemia is a hereditary blood disorder caused by the mutation of the gene haemoglobin beta, by modifying this gene it’s possible to stop the disease from ever developing. Only unviable human embryos (pictured), which could not result in a live birth, were used in this study – the DNA contained inside the embryos was spliced and repaired using a gene cutting technique known as CRISPR/Cas9. However, the success rate was low, and the trial has now been stopped, but it does indicate a new step towards the eradication of genetic diseases. Clearly this work raises a lot of ethical questions – where do you draw the line with making up our make-up?

Written by Helen Thomas

Image by Yorgos Nikas
Science Photo Library
Any re-use of this image must be authorised by Science Photo Library
Research published in Protein and Cell, April 2015

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Schizophrenia not a single disease but multiple genetically distinct disorders

New research shows that schizophrenia isn’t a single disease but a group of eight genetically distinct disorders, each with its own set of symptoms. The finding could be a first step toward improved diagnosis and treatment for the debilitating psychiatric illness.

The research at Washington University School of Medicine in St. Louis is reported online Sept. 15 in The American Journal of Psychiatry.

About 80 percent of the risk for schizophrenia is known to be inherited, but scientists have struggled to identify specific genes for the condition. Now, in a novel approach analyzing genetic influences on more than 4,000 people with schizophrenia, the research team has identified distinct gene clusters that contribute to eight different classes of schizophrenia.

“Genes don’t operate by themselves,” said C. Robert Cloninger, MD, PhD, one of the study’s senior investigators. “They function in concert much like an orchestra, and to understand how they’re working, you have to know not just who the members of the orchestra are but how they interact.”

Cloninger, the Wallace Renard Professor of Psychiatry and Genetics, and his colleagues matched precise DNA variations in people with and without schizophrenia to symptoms in individual patients. In all, the researchers analyzed nearly 700,000 sites within the genome where a single unit of DNA is changed, often referred to as a single nucleotide polymorphism (SNP). They looked at SNPs in 4,200 people with schizophrenia and 3,800 healthy controls, learning how individual genetic variations interacted with each other to produce the illness.

In some patients with hallucinations or delusions, for example, the researchers matched distinct genetic features to patients’ symptoms, demonstrating that specific genetic variations interacted to create a 95 percent certainty of schizophrenia. In another group, they found that disorganized speech and behavior were specifically associated with a set of DNA variations that carried a 100 percent risk of schizophrenia.

“What we’ve done here, after a decade of frustration in the field of psychiatric genetics, is identify the way genes interact with each other, how the ‘orchestra’ is either harmonious and leads to health, or disorganized in ways that lead to distinct classes of schizophrenia,” Cloninger said. 

Although individual genes have only weak and inconsistent associations with schizophrenia, groups of interacting gene clusters create an extremely high and consistent risk of illness, on the order of 70 to 100 percent. That makes it almost impossible for people with those genetic variations to avoid the condition. In all, the researchers identified 42 clusters of genetic variations that dramatically increased the risk of schizophrenia.

“In the past, scientists had been looking for associations between individual genes and schizophrenia,” explained Dragan Svrakic, PhD, MD, a co-investigator and a professor of psychiatry at Washington University. “When one study would identify an association, no one else could replicate it. What was missing was the idea that these genes don’t act independently. They work in concert to disrupt the brain’s structure and function, and that results in the illness.”

Svrakic said it was only when the research team was able to organize the genetic variations and the patients’ symptoms into groups that they could see that particular clusters of DNA variations acted together to cause specific types of symptoms.

Then they divided patients according to the type and severity of their symptoms, such as different types of hallucinations or delusions, and other symptoms, such as lack of initiative, problems organizing thoughts or a lack of connection between emotions and thoughts. The results indicated that those symptom profiles describe eight qualitatively distinct disorders based on underlying genetic conditions.

The investigators also replicated their findings in two additional DNA databases of people with schizophrenia, an indicator that identifying the gene variations that are working together is a valid avenue to explore for improving diagnosis and treatment.

By identifying groups of genetic variations and matching them to symptoms in individual patients, it soon may be possible to target treatments to specific pathways that cause problems, according to co-investigator Igor Zwir, PhD, research associate in psychiatry at Washington University and associate professor in the Department of Computer Science and Artificial Intelligence at the University of Granada, Spain.

And Cloninger added it may be possible to use the same approach to better understand how genes work together to cause other common but complex disorders.

“People have been looking at genes to get a better handle on heart disease, hypertension and diabetes, and it’s been a real disappointment,” he said. “Most of the variability in the severity of disease has not been explained, but we were able to find that different sets of genetic variations were leading to distinct clinical syndromes. So I think this really could change the way people approach understanding the causes of complex diseases.”