Body disorders that you never knew existed- Part 1

Welcome to the world of the weird and wonderful. You will be taken on a run down through five of the most unusual, rare, fascinating and possibly unthinkable disorders that we know exist.

1.  Hypertrichosis- ‘Werewolf syndrome’

HypertrichosisImagine having a body covered in so much hair that people mistake you for a werewolf. This is something that sufferers of hypertrichosis have to deal with on a daily basis. Hair growth isn’t restricted to the areas of the body that we consider ‘normal’, instead spreading to areas over their body and face in men, women and children alike. The disorder is extremely rare with fewer than 100 known cases worldwide. But how does this unusual condition come about? Scientists think that there are two causes; one of a genetic nature, and the other developing due to certain external factors. Researchers in China tested the DNA of two unrelated patients with the condition and found that there were extra genes present in the same region of the X chromosome. This extra DNA sits near to a gene involved in hair growth (SOX3) and is thought to switch on this gene, stimulating mass hair production. Next time you have a moan about having to shave or wax to get rid of your unwanted hair, spare a thought for hypertrichosis sufferers.

2. Foreign Accent Syndrome

Speech_2Whilst this sounds like something from a very strange medical drama, foreign accent syndrome really does exist. Usually occurring as a result of severe brain injury such as stroke or trauma, the patient ends up speaking with an accent distinct from the one they had before. One of the most recent cases occurred after a women suffered from a severe migraine. She woke up in hospital to find that she was speaking with a Chinese accent despite never having visited China. What is to blame for this sudden change in dialect? Scientists have found that damage to the parts of the brain required for speech and movement of muscles during speaking affects how we pronounce words. This changes the timing and rhythm of our speaking. As our tongue forms words in a different way, it sounds as if we are speaking with an accent.

3. Congenital pain insensitivity

SplinterA condition where you are unable to feel any pain sounds like an absolute blessing. No headaches, no pain when you’ve broken a bone, or when you whack your knee on the side of a table. But now think about it seriously, imagine not being able to tell if you’ve pushed your body too far exercising or cut your finger whilst chopping up a carrot. Pain is one of our body’s most protective mechanisms, alerting us that something is wrong and needs our attention. Without this basic mechanism we would have no way of knowing when something has gone wrong.  Individuals born with this condition have what we call a loss of sensory perception: they are unable to feel pain but can feel pressure and touch. A mutation affecting how the nerve cells form during development is thought to cause the improper functioning of these nerves in response to pain. Sadly, this is likely to occur with other deficits such as mental retardation and in some cases the ability to regulate body temperature. Not being able to feel pain would be extremely advantageous-…if you are a superhero that is. For us mere mortals, not so helpful.

4) Fibrodysplasia Ossificans Progressiva- ‘Stone man syndrome’

FOPStone man syndrome does what it says on the tin. Cue an image of The Thing from the Fantastic Four- a body essentially made of rock. Slowly over time, sufferers of this excruciatingly painful disorder start turning to bone. Due to a malfunction of the bodies repair mechanism, the gene that is responsible for ossification (bone growing) during development remains active. This gene is usually switched off after the development of bones in the fetus. In time, muscles, tendons and ligaments slowly begin to harden and turn to bone. As the degree of ossification worsens, everyday tasks such as tying your shoelaces or walking to the shop become an impossible task. Would surgery provide suitable relief? In short, no. Surgery is not considered an option as this type of trauma causes the body to attempt to repair the damaged area – creating more bone and more damage than before. Although there are around 700 confirmed cases of FOP worldwide, there is very little known about how to treat it. Remember next time your body feels stiff and uncomfortable that what you are experiencing couldn’t even scratch the surface of what these people of made of stone are subjected to.

5) Trimethylaminuria- ‘Fish odour syndrome’

FishTrimethylaminuria is a rare metabolic condition that can be embarrassing for individuals suffering from it. An enzyme (FM03) that is needed to breakdown trimethylamine (TMO) into a substance called trimethylamineoxide is absent from the body. TMO gradually builds up without the enzyme to break it down, and so has to be removed from the body through other outlets such as the skin, urine and breath.  Whilst sweating out toxins isn’t unusual, it is the strong fish-like odour that comes partnered with it that is considered abhorrent. The condition is more common in women, possibly irritated by female hormones. Despite the putrid odour, there are no other symptoms associated with it.

Humans – Why Are We So Gross?

Our bodies, all in all, are pretty impressive. We’ve got big brains, mighty muscles and intricate insides. Human bodies are remarkable, finely tuned machines. Unfortunately these machines have a lot of by-products. We make sick, snot, pus and poop. There are no two ways about it, these things are pretty disgusting. But what are they, what are they made from and why have our bodies evolved to make so much unpleasant stuff?

Read on if you have a strong stomach and you’re not currently eating. This isn’t one for the squeamish.

What is Sick Made Out Of?

VomittingSick is just undigested food and liquid from your stomach mixed with gastric acid. The gastric acid is what makes throwing up hurt. It is a mix of HCl and KCl that the stomach uses to kill microbes present in food and has a low pH (around pH1). Food is churned around in the stomach for a bit with a few digestive enzymes and the gastric acid. Once the food is nice and slurry-like it passes into the intestines for absorption.  When you’re sick, whatever hasn’t made it to the intestine does a reverse anti-gravity manoeuvre and comes back up. Lovely stuff.

 

What is Snot Made Out Of?

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Image Taken from: http://www.flickr.com/people/[email protected]

Snot is infected mucus. Mucus is constantly secreted by the delightfully named Goblet cells that adorn your airways. Mucus is largely made out of proteins with massive chains of sugar attached. These molecules cling on to water, which gives mucus its slimy consistency. Most of the time mucus is a good thing, trapping dust and microbes. The cells of the airways are covered in hair-like structures that can then waft the dust-microbe-mucus combo out of the airways and down into the stomach where it can be digested.

This all goes a bit awry during a cold when the cells in your airways get infected with cold viruses and the mucus becomes snot. Your immune system declares war on the virus but unfortunately during the battles, there are a few casualties to your own cells. Some of these are white blood cells that can explode to release chemicals, which kill invading nasties. One of the thing that spills out of these exploding cells is a green coloured anti-bacterial enzyme called MPO. So green snot isn’t so bad, it just means your white blood cells are doing their job and fighting infection.

What is Pus Made Out Of?

pus 2Pus isn’t too dissimilar to snot as it’s made out of a lot of debris from battles between the immune system and infection. Pus is essentially the remnants of all the white blood cells that have rushed to a site of infection and died fighting the invading microbes. Pus isn’t harmful, it’s a sign your body has been fighting infection the way it should and eventually the body will clear pus from sites that were infected. If pus doesn’t clear, it may be a sign your body is struggling to fight an infection.

What is Poop Made Out Of?

Yep, the grossest of all gross things. We all know what poop is, but what is it actually made from? Well, unsurprisingly undigested food makes up a large proportion. Dietary fibre – the stuff that keeps you regular – is the stuff you can’t digest and gives your poop a bit of form. So that’s good. There’s also a LOT of bacteria in there, which along with methane, causes the smell. It’s brown because of bile, which is a yellowing-green substance secreted by the gallbladder to help digest fat. When bile passes through the digestive system it changes colour and turns brown. The gallbladder is situated inside the liver, so if the liver gets swollen and inflamed it can block the bile duct and this results in poop that is white as a sheet. So if your poop looks like it’s seen a ghost, I suggest you see a doctor.

So there you have it – that is why human beings are gross.  It’s quite possible we’ve evolved to find these things disgusting as a way to avoid illness and infections.  Whatever the reason we find them off-putting, they are all just part of being human.

Congratulations if you made it the whole way through the post – you’re made of strong stuff.

Post by Liz Granger

Twitter: @Bio_Fluff

How much of ‘life’ can be patented?

A fragment of a complementary DNA array. Photo by Mangapoco

Can patents give scientists or companies the rights to ‘life’? In June this year the US Supreme Court ruled that genes cannot be patented in the States. To say this ruling was controversial would be a massive understatement; this mixed ruling has led to equally mixed reactions from the public, academics and pharma/biotech companies.

Without wanting to take sides, I think high profile cases like this are brilliant because they get people talking about what may be owned by whom, where, and under which conditions. A lot of innovation and scientific discoveries are largely paid for and protected by patents. And since scientists are becoming ever more creative with synthetic biology, I think the questions around whether ‘life’ is patentable are increasingly important.

So I have taken the liberty of compiling a list of need-to-know biological patent questions and example relevant case, in a nutshell, but in no particular order…

Can you patent a gene?Association for Molecular Pathology v. Myriad Genetics, 2013

In short, Myriad made kits that test for BRCA1 and BRCA2, two genes that are involved in a certain type of breast cancer. This meant that only Myriad or people who paid for the kit could test whether someone had a gene which increases the chance of developing breast cancer. Although the US Supreme Court’s ultimate decision was that naturally occurring genes can’t be patented in the States any more, there were other important rulings made in the same case. Complementary DNA (like the other side of a molecular zip), artificially-made DNA and gene chips are still patentable in the US, so there’s arguably still room for genetic test innovation.

Can you patent genetically modified organisms?Diamond v. Chakrabarty, 1981

Ananda Mohan Chakrabarty is a genetic engineer who modified the bacteria Pseudomonas into a new species called Pseudomonas putida which can break down crude oil (useful for oil spills) and polystyrene (useful for recycling). Chakrabarty wanted to patent his invention but his application was refused by the US Patent Office because it was thought that no one should be able to patent a living organism. Eventually the patent was allowed, because even though the bacteria are living, the species is technically ‘human-made’.

Can you farm genetically modified crops?Monsanto v. Schmeiser 2004

Monsanto genetically modify crops that are resistant to weedkillers like RoundUp (which they also produce). Percy Schmeiser, a Canadian crop farmer, found some canola plants growing on his land that were RoundUp resistant, so he harvested the crop and planted it for the next year. Since Monsanto sell the RoundUp-resistant canola seed, they asked Schmeiser if he would agree to pay for a licence so that he could use their invention on his land. Schmeiser refused, since he argued he didn’t get the seeds from Monsanto but Monsanto eventually sued him. Four years later, Schmeiser managed to bill Monsanto $660 for clearing all the RoundUp-resistant canola from his fields. You win some, you lose some.

A) shows human embryonic stem cells; B) shows neurons derived from human embryonic stem cells. Image by Nissim Benvenisty

Who owns human embryonic stem cells?Bruestle v. Greenpeace 2011

Greenpeace challenged Professor Bruestle on his new method of treating stem cells from human embryos so that they turned into ‘beginner’ nerve cells. This case led to a ruling by the European Court of Justice that no one in Europe can patent human embryonic stem cells (or techniques that use them) which originate from where an embryo has been destroyed. This is based on an obvious moral argument that no one should profit from destroying human embryos, but some argue that if a technique is legal, it should be patentable.

Can you patent methods of measuring life processes? Mayo v. Prometheus 2012

Prometheus had the rights to sell a kit which allowed doctors to 1. give patients a drug for gastrointestinal disease, 2. measure how well it was working, and  3. work out whether to increase or decrease the dose. Mayo used to get this kit from Prometheus but then they stopped buying and subsequently started making their own instead.  Prometheus tried suing Mayo, but in court it was argued that steps 1 and 2 were pretty standard, and that step 3 was a logical decision based on a mathematical equation, which can’t really be patented. The kit’s patent was revoked, though the case still impacts today on research into personalised medicine. Here’s a (spoof) video that deals with some of the emotional quandary resulting from this case.

A neem tree.

Can you patent a species? Indian Government v. WR Grace 2005

You could try to patent substances derived from naturally occurring species, but you might become hugely unpopular. In Europe a patent was granted for a fungicide derived from neem, an Indian tree used by locals for more than two thousand years for… well, its anti-fungal, medicinal properties. Once this was pointed out by the Indian Government, the patent was revoked.

I hope you have enjoyed this list*. Incidentally, while I don’t think Buzzfeed has patented the idea of creating lists, they have created a list of totally bizarre patents, which you may also enjoy. Cheers Buzzfeed.

Post by Natasha Bray

*I should point out now a) I am not a lawyer so none of the above is advice or guaranteed and b) patent law evolves and varies hugely between countries, so some of the items on this list may be ‘invalid’ (…so to speak).

Welcome to the pleasuredome: How we evolved to love music

Part of an ancient cave bear femur flute discovered in Slovenia in 1995
Part of an ancient cave bear femur flute discovered in Slovenia in 1995

In 2008 at Hohle Fels, a Stone Age cave in Southern Germany, archaeologists discovered what is thought to be the oldest example of a man-made musical instrument: a vulture bone flute dating back to the period when ancestors of modern humans settled in the area (~40,000 years ago). This discovery suggests that our ancestors were probably grooving to their own beat long before this time – making music, arguably, one of the most ancient human cognitive traits.

This raises an interesting question: In a time before electric duvets and home pizza delivery, how and why did our ancestors find time to indulge in such a non-essential task as the creation of music?

This was a mystery contemplated by the father of evolution Charles Darwin. In The Descent of Man he questions why a skill which appears to provide no survival advantage should have evolved at all, stating “As neither the enjoyment nor the capacity of producing musical notes are faculties of the least direct use to man in reference to his ordinary habits of life, they must be ranked among the most mysterious with which he is endowed”. However, in his autobiography he later suggests a solution to this mystery while reflecting on his own lack of musical appreciation, lamenting “If I had to live my life again, I would have made a rule to read some poetry and listen to some music at least once every week; for perhaps the parts of my brain now atrophied would thus have kept active through use. The loss of these tastes is a loss of happiness, and more probably to the moral character, by enfeebling the emotional part of our nature”. Here Darwin seems to have stumbled upon a fact with which many of us would intuitively agree, the notion that music can enrich our life by generating and enhancing emotions. But can we find a biological basis for this assumption?

Do you hear what I hear? – How our brains process and store sounds and melodies:

Scientists believe that we are unique in the way our brains process sounds. Unlike other animals, the auditory centres of our brains are strongly interlinked with regions important for storing memories; meaning, we are very good at combining sounds experienced at different times. This ability may have been crucial for the evolution of complex verbal communication. For example, consider times when the meaning of a spoken sentence does not become apparent until the last word – we’d have a pretty hard time understanding each other if by the end of a sentence we had already forgotten how it started! This is a skill even our closest relatives appear to lack, and one which is necessary for development of both language and musical appreciation.

We are also really good at forming long term memories for sounds – think about your favourite song, are you able to hear the music in your ‘mind’s ear’? Scientists have found that most people are able to imagine music with a surprising level of accuracy.

It is believed that throughout life, as we listen to our own culturally specific music styles, our brains develop a template of what music should sound like. These templates are specific to each individual, depending on what forms of music they are exposed to. From this we develop the ability to predict how certain music styles should sound and are able to tell when something doesn’t quite fit our expectations. The musical templates we develop throughout life provide us with a standard against which we judge the desirability of new melodies.

How music tickles the brain’s pleasure centres:

Life can be a bit of a maze, and there are times when we need something or someone to give us the thumbs up and let us know that we’re doing things right. Like a parent praising a child, our brains provide us with an internal ‘reward’ signal to let us know we’re on the right track. This system, in the brain’s mesolimbic area, is responsible for the hedonistic sense of pleasure produced by evolutionarily desirable behaviours, such as eating, sex or caring for offspring. Scientists are now able to see this reward system and the behaviours which activate it using positron emission tomography (PET) imaging. Interestingly, along with activation caused by behaviours with an obvious survival advantage, researchers have found that the strong emotional response people experience when listening to music (defined as the feeling of chill you get when listening to a particularly emotionally charged piece)  also activates this reward system.

bassImaging studies reveal that the rewarding aspect of music is also a very personal phenomenon, since mesolimbic activation can be initiated by different melodies in different people. This is due to the way our brains are connected. Auditory and frontal cortex regions, which store our musical preferences, are linked to mesolimbic reward pathways meaning that the sensation of music-induced pleasure is defined by your own personal musical preferences.

It is therefore possible that music could have started life as a way of strengthening social groups, through shared preferences – something which still happens today. Groups linked by a shared emotional experience could form stronger bonds which may ultimately have helped group survival. These findings indicate that our ability to enjoy music may be less mysterious than Darwin originally thought.

Post by: Sarah Fox

What songs give you the chills? Have you formed long lasting friendships over shared music tastes? Let us know your stories in the comments below.

The Brain in Pain

How brain imaging technology is placing emphasis on the potential for the mind to influence our physiology, and how this influence should not be underestimated.

What really determines how we feel pain? Scientists are now suggesting that the complex emotional state of the brain may in fact bias how we process and thus experience this highly protective sensation. What’s more is that this may explain how there is such variation in our pain thresholds and how some individuals can be susceptible to conditions of chronic, prolonged pain.

Our ability to detect pain acts as an alarm system, protecting and guarding our bodies against potentially damaging aspects of our environment. This imperative awareness is mediated by ‘nociceptive’ nerve fibres that innervate our skin and organs, and feed into the pain processing pathways of the central nervous system. These fibres feed via the spinal cord to the brain stem, to the pain generating centres of the brain, most commonly the somatosensory cortex.

Izzy pic 1The complexity of the relationship between peripheral pain input, the actual painful experience, and subsequent report of the sensation makes documenting pain in clinical research particularly problematic. Over the past decade, scientists have been addressing the inherent flaws that exist in pain research, and how this limits our understanding and progress in anaesthetic therapeutics. Experimental neuroimaging is emerging as a highly efficient method in mainstream pain research to accurately identify the key areas of the brain responsible for mediating these protective and highly important sensations. By allowing access to the brain activity where these sensations originate, experimental brain imaging allows for a more accurate and objective measure of the pain experience.

The multidimensionality of pain may be explained by the variety of sensory and cognitive aspects that may ‘tune’ our individual pain thresholds. In anaesthetic research, much emphasis is now being placed on the emotional factors and thought processes that impact how we experience pain. Consider first the manner in which we can allocate our attention to different aspects of our environment. Our ability to focus on relevant events and attenuate our responses to irrelevant events is an integral component of higher cognitive functioning. So much so, that these attentional influences may have an impending impact on the intensity of our peripheral sensations. In 2003, researchers tested the power of distraction by presenting a series of unpleasant odours to subjects whilst they were subjected to thermal pain. They found, like many other psychophysical studies, that when the subject’s attention was focused on the pain, they described the sensation as more intense and unpleasant.

Izzy pic 2Then consider, how our subjective experience of pain could be impacted by our expectations and that these expectations of pain can be attributed in part to individual trait differences: fear and anxiety may play a prominent role in the activation of pain pathways. Our cognitive predictions can be impacted by false and unequivocal beliefs stemming from inaccurate memories or inappropriate anxiety that distorts our interaction with the situation in the future. In a neuroimaging investigation in 2006, researchers identified that those individuals that were more anxious about pain (as determined by the Fear of Pain Questionnaire) showed a heightened response in brain areas that encode the emotional aspects of pain, showing their anticipatory fear could actually physically heighten their sensitivity to the painful sensation.

To the ‘normal person’, pain is a mostly acute and infrequent sensation such as a headache, bruise, or the occasional back twinge. For some people however, pain can persist for months at a time, and is often completely unexplainable. Chronic pain states include migraines, neuropathic pain and arthritis. Chronic pain is one of the largest medical health problems in the developed world because it cannot often be efficiently managed or treated. This is however, not for a lack of trying. Currently, there is little research that focuses on understanding the biology of chronic pain, but the development of neuroimaging techniques may be opening the first window of insight into the neurological framework for such conditions.

The problem with chronic pain states are that ‘secondary pain’ often develop as a consequence of the negative impact of unsuccessful treatments. Prolonged worry and emotional turmoil about chronic pain diagnosis leads to the secondary development of mood disorders and depression. The majority of this area of research has identified that a positive mood has a significant pain-attenuating effect and negative mood increases sensitivity to experimentally induced pain. Furthermore, population-based longitudinal investigations have observed that depressed individuals are at an increased risk of developing chronic pain conditions, than those without mood disorders. This evidence establishes a role for emotion-based tuning of pain modulatory systems and provides a basis for novel strategies in chronic pain management by addressing the negative lifestyle impacts associated with such conditions.

It is a common fallacy that placebo effects lack credibility or significance in modern healthcare systems. In fact, since the post-World War II introduction of placebo effects into mainstream medicine, scientists have used the impact of placebos in controlled drug trials to gather information on the qualitative nature of pain. A placebo describes an ineffectual treatment (often in the form of a sugar pill) that is intended to deceive the recipient to believe they are taking a pharmacotherapy to treat their condition. Placebo research has implicated prefrontal pathways in the brain as a source of cognitive pain modulation, because studies have consistently observed that activation of this area correlates with ‘emotional detachment’ from the pain, and thus a higher ability to cope with it. With its extensive connections to the emotion and pain processing centres, this area acts as a powerful modulator in expectation and reappraisal of the placebo effect, by dampening fear by suppressing amygdala (the emotion centre) activation. Remarkably, other personality traits like dispositional optimism can seriously enhance placebo analgesia. This research reinforces the importance of positive expectations about the efficiency of a drug and may provide an explanation for why many analgesic treatments in chronic pain are unsuccessful at a population level.

Izzy pic 3“To consider only the sensory features of pain, and ignore its motivational and affective properties, is to look at only part of the problem, not even the most important part at that” are words from the pain researchers R. Melzack and K.L. Casey who even 50 years ago, placed emphasis on the multidimensionality of pain perception. The rapid development of neuroimaging techniques means the next 20 years are predicted to be particularly prosperous for identifying new targets in surgical and pharmacological pain relief tools. In the mean time, it seems a ‘mind over matter’ attitude could be more beneficial than we would ever have expected.

Post by Isabelle Abbey-Vital