Category Archives: Biology

Ever Wonder Why Humans Are So Clever? Scientists Hone In On Special Genes

brain clever gene

There is no doubt that humans are the smartest creatures on the planet. But for the longest time it has been unclear just how exactly we made the jump from simple creatures to ones capable of mathematics, ethical debate and invention.

But now scientists may have begun to unravel the mystery, discovering that three similar genes may be behind the boost.

Coding for the expansion of our brains by increasing the potential for creating neuronal cells, it may be that these three genes hold the key to human intelligence.

clever gene evolution notch2

Monkeys are intelligent creatures, and share most of our genetic material. So what makes us different? Image courtesy of Flickr.

Genes For ‘Clever’ Are A Mistake.

Publishing in CellPierre Vanderhaeghen and his team investigated the role of the NOTCH2NL gene.  This is just one of a family of genes responsible for modulating the development of organisms, but has appeared in four similar forms in humans.

By reconstructing the story of the gene over time, the team noticed something interesting.

Around 14 million years ago a part of the gene was copied by mistake, and remained silent for millions of years. Later another mutation and insertion rendered it functional, eventually leading to a total of four versions. Three work, and the last remains quiet within our DNA.

clever dna gene brain intelligence

Our DNA defines what and who we are, and by studying it we can learn more about what it is to be human. Image courtesy of Flickr.

So what does the gene do? Aside from promote brain cell maintenance, it seems the trio also increase the potential for new brain cells to be created. When Vanderhaeghen inserted the genes into a growth culture including human brain cells, they created new stem cells.

These stem cells can differentiate (change) into new brain cells.

Furthermore, a certain protein expressed by the gene stops further change, meaning that new neuronal cells can replicate over and over.

Basically, the duplication of the gene seems to lead to a greater number of brain cells, and with that, intelligence.

Neuronal Cells, Evolution and Cleverness

When studying ‘intelligence’ humans have made a lot of mistakes. First we considered a ‘larger’ brain likely ‘more intelligent’, but when you consider an elephant you can see this doesn’t quite work.

It seems that the two best predictors of intelligence are ‘surface area’ of the brain and ‘number of connections’ between the cells.

Basically, by increasing the surface area of the brain there is more room for brain cells, and by forming efficient and numerous connections between them these cells can work more effectively.

This is the case in the human brain, which due to its many rolls and crevices boasts a relatively huge surface area.

This new data sheds some light on why our brains may have developed this way, with the NOTCH2NL genes fundamental in both producing surplus neutrons and modulating their abilities.

But the odd thing is that this kind of  ‘mistake’ is fundamental to evolution.

gene clever brain

Every species on earth evolves, and millions of years of mutation and selection has created the wealth of diversity we see today. Image courtesy of Flickr.

When a species reproduces it passes its genes, the coding material for the production of the species, down the line. Although the mechanisms for replication of the molecule are pretty good, mistakes are made. These are called  ‘mutations‘.

Most are harmless, and have no clear effect on the new organism. But sometimes they confer some benefit, increasing the organisms, and thus  the species’, chance of reproducing again.

Explained in the context of evolution, these mutations  are defined as ‘individual variation‘, and this is one of the central tenets of evolutionary theory. In the case of the  NOTCH2NL gene, it seems the mutation means greater intelligence.

More research is needed to explain intelligence fully, but it seems we have caught a lucky break.

What’s Next?

The opinions expressed in this article are those of  Dr Janaway alone and may not represent those of his affiliates. Featured image courtesy of Pixabay.

Brain Ageing May Be Due To Genetic Problems. Study Shines Light On ‘Weakness’

As you grow older many things are certain. Things wear out. One issue is a loss of brain cells (neurons.)  Although the numbers lost through ageing aren’t as striking as they once were, we cannot ignore the fact that the nature of brain cells puts them at risk to damage by any means. And whats worse, losing them can have very significant effects on your life.  Previously, our complicated model of understanding explained the severity of brain disease based on a lack of cell replacement or ‘hardiness‘, amongst other factors such as increases in certain proteins. But new research may have found a fundamental problem with how our neuron’s use energy, and a genetic tendency toward self-destruction. It may be that the brain is programmed to burn itself out.

Old Brains and Old Genes

In a new study published in Cell Reports, researchers compared brain cells from both ‘young’ and ‘old’ donors. They compared the levels of genes ‘upregulated‘ (i.e more deliberately active,) in association with brain cell energy processes such as mitochondrial activity (a cell organelle involved in energy use. )’Upregulation’ of a gene means that the behaviour or process it codes for is more likely to happen, i.e up regulation of genes associated with growth means the organism grows more. They then looked at whether there was a difference in the brain cells susceptibility to damage dependent on the level of the genes expressed in each group. Simply put, they wanted to know if age effected the genetic activity governing brain energy use, and whether this was good or bad.

brain death neutron gene

Neurons, once lost, do not return. So why are they so delicate? Image courtesy of NICHD

They found that in older cells,  that 70% of  genes associated with energy use were expressed at lower levels. They also found that replicative processes associated with energy use, as well necessary protein creation, were also lower. Most strikingly, this was associated with defects in the very mitochondria affected. This means that since the brain relies on mitochondrial activity for energy, that damage to the brain may actually occur due to genetic issues rather than simply blood loss or other disease.  This will increase the risks associated with ageing, as well as potentially explain why the brain dies off as we grow older.

A New Model Of Brain Death

Although the research has provided a fundamental shift in how we may understand brain cell death, it must be placed in context. Rather than undermining current theories, such as neurons being especially susceptible to blood loss, it may both help to explain them and provide a better picture of how brain cells die overall. As maudlin as this may seem, it may provide new avenues for genetic therapy down the line. We are already seeing genetic therapies being developed that target ‘problematic processes.’ There is no immediate reason that these therapies could not be adapted after further research. So, in this case, knowledge is very much power.

So watch this space, because as we age the need for more intervention increases. And this may be another step toward protecting our brain, the centre of our being, for that much longer. And let us know what you think in the comments below.

What’s Next?

The opinions expressed in this article are those of  Dr Janaway alone and may not represent those of his affiliates. Images courtesy of flickr. The content matter of this article has been simplified greatly from the original journal publication. This has not been done to obscure or overly simplify  the findings of the research, but to make the findings communicable. And I don’t mean to just the lay person, I mean trained professionals who can’t make sense of ‘ We found that 70% of all mitochondrial genes were downregulated in old iNs compared to young iNs ( Interestingly, categorization of the mitochondrial genes into functional groups revealed that 93% of the genes that composed the mitochondrial ETC complexes I–V were downregulated in old iNs (example of source text. )But I am very aware that in the process of making the data and article more understandable that I risk making mistakes in my inferences. If that is indeed the case, please do let me know so I may retract and improve on the subject matter at hand. Ben.

Hopes For Childhood Cancer Prevention As Doctor’s Focus In On Immune System

Acute Lymphoblastic Leukaemia (ALL) is a cancer of blood primarily affecting children. And currently kills around 1400 people a year in the USA alone. It is often a devastating disease, presenting with non-specific symptoms and can be advanced at the time of diagnosis. Treatment is usually chemotherapy, a collection of chemicals designed to wipe out cancer cells but often doing damage to other systems. For the longest time myriad causes have been used to explain the disease. But in a landmark article published in Nature Reviews Cancerit may be that  unifying cause has been found. And with it, new avenues for the prevention of this deadly disease.

A New Hypothesis

In his work, Professor Greaves reviewed 30 years of evidence, including studies on leukaemia ‘epidemics’ in the wake of infections, to come to the novel conclusion that ALL may be due to an ‘untrained immune system.’ He also noted that the rise of the disease in affluent societies (primarily western,) may be accounted for by this explanation. But to explain this new theory, we must first understand a little about the immune system.

leukaemia prevention greaves

White Blood Cells become unregulated and destructive in Leukaemia

The human immune system exists to identify, memorize and attack threats. These include viruses, bacteria and often atypical cells that could become cancer. In immunodeficient states, such as HIV, the immune system is rendered incapable of performing its tasks and people get sick with infections that otherwise would be harmless. You can be born with a faulty immune system, or it can become compromised later through disease, cancer or different therapies (chemotherapy, for example, can damage multiple systems including the immune.)

But a working immune system relies on exposure to a pathogen, like a virus, to be able to identify it, build up ways of fighting back and then, ultimately, attacking and destroying it. Failure at any part of this system creates problems. This is where ALL may be a problem.  In his new Unified Theory, Greaves claims that the development of leukaemia happens like this:

  1. A genetic mutation occurs in the womb that increases the risk of developing a ‘pre-leukaemic’ clone cell.
  2. A lack of exposure to pathogens in the first year of development means that the immune system does not learn how to recognize and deal with threats.
  3. Exposure to infection later in childhood causes an immune misfire leading to leukaemia.

To put things simply, in a target population genetically predisposed to a higher risk of leukemia, reduced exposure to normal infections increases the risk of developing leukemia.

A Disease Of Affluence

leukaemia infection greaves prevention

Greave’s work may help to explain why modern societies have a role In increasing Leukaemia risk

This all may sound fairly straightforward, but you may wonder why western societies are at risk. Along with other hypotheses linking disease with sanitation, the Unified Theory suggests that our penchant for cleanliness may be a factor in creating disease. Often children in the western world, growing up in cities and with justifiably cautious parents, are simply not exposed to the same diseases that used to be commonplace. And then after an epidemic of a disease later, this means that the untrained immune system is prone to malfunction. It is a bold hypothesis but readily accounts for a disease that has a significant risk.  As reported by the BBC, he said;

“The research strongly suggests that acute lymphoblastic leukaemia has a clear biological cause and is triggered by a variety of infections in predisposed children whose immune systems have not been properly primed.

But Greaves is quick to point out that there is no blame for parents, but that the disease more likely reflects society in general. He says it is not as simple as exposing your child to ‘dirt’, but that encouraging normal interactions with other children may be beneficial in early years. He also states categorically that more research is needed to establish how the disease can be prevented. And charity Bloodwise have been quick and sensible to reassure parents that nothing could have been done to prevent current cases based on Greave’s early findings. They said;

“While developing a strong immune system early in life may slightly further reduce risk, there is nothing that can be currently done to definitively prevent childhood leukaemia.”

Exposure and the Future

Whilst Greaves hypothesis may shed light on why ALL develops, it is just the start. For some kind of preventative measure to work we must first research further just what exactly is protective, and whether this can be delivered in a safe and reliable form. Something like a ‘live yoghurt’ has potential, but in a disease of such severity, we must be sure. This will take time. So although the research may provide new avenues, we must be patient to ensure that any new intervention will be effective.

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The opinions expressed in this article are those of  Dr Janaway alone and may not represent those of his affiliates. If you are concerned about your health please see your local healthcare provider. Images courtesy of Flickr.

Image credits

  1. White Blood Cells 
  2. Cityscape 

 

 

 

 

Researchers just created a Robot ‘Mini-Organ’ Nursery, and the implications are astounding.

nursery robot disease freedman

Robots are an increasing part of our day to day lives. From simple assistants like Siri to complex quadripedal automatons like Spotmini, robotic technology is rapidly becoming common. And although some may seem novelties, a revolution in robotics has been pioneering medical treatments for a while now. And researchers at UW School of Medicine have just taken the next step into a future that seems all too magical. For the first time, robots are growing human tissue that functions just like our own organs.  What does this mean for the future? And just how are they doing it?

Robot Nurseries

In a statement released by UWSOM, Professor Benjamin Freedman hailed the new technology as a ‘secret weapon’ in the fight against disease. He and his team utilized pluripotent stem cells to create miniature versions of human organs to test new medicines and disease treatments. These particular types of stem cells are special because they can be influenced to become any type of cell, and as such are already an exciting prospect for degenerative diseases. And although stem cell medicine has been around for a while, its integration with automation makes widespread research all the more likely.

One of the barriers to influencing and maintaining these cells is time, and the other is difficulty. A researcher may take a day to set up an experiment and have to keep a very close eye on things. The spectrum of error is large. But by using a robotic, high precision and automated system, the research team has been able to repeat the process in as little as 20 minutes. Furthermore, since the system cannot ‘get tired’ or ‘lose concentration’ it is able to experiment for as long as necessary, with a level of precision and reliability far beyond human scope. By creating these robot nurseries, Freedman has turned stem cell research into a superhighway.

Mini Organs by Robot

The science is complicated, but essentially tiny versions of human organs are made for experimentation. This allows researchers to test new treatments in a far more realistic and contained setting. And with automation, means that experiments can be done en masse in a short time. As reported by IFL Science in their wonderful article, the team was able to produce ‘diseased’ miniature kidneys, and discover new pathways that could be used to treat human disease. This is just one example of how this technology is already yielding incredible results.

So whats to be excited about? Simply put, by using robotic technology to automate stem cell research we can better understand disease and treat it, and in faster times. In a world with a growing population, efficient and cheap treatment is all the more valuable. Many warn against the use of robotics across different sectors, but this is one clear example of just how useful they can be. Summarising the significance of the new technology humbly, Freedman says;

“The value of this high-throughput platform is that we can now alter our procedure at any point, in many different ways, and quickly see which of these changes produces a better result.”

Are Robots Medicine’s Future?

With robotic technology already commonplace in medicine (i.e in surgery,) and improving every day, there is no doubt that it provides an excellent means of care. Greater accuracy, learning and control are granted to doctors and researchers through the use of adjuvant robotic tools. Freedman’s work is miraculous because it may overturn the major sticking points of one of the worlds most promising research avenues. By speeding up the process and increasing its efficacy, the lag between need and treatment may shrink substantially. So watch this space, because who knows what will come next.

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The opinions expressed in this article are those of  Dr Janaway alone and may not represent those of his affiliates. Images courtesy of Flickr.

 

 

 

Is The Cosmos Truly Empty? Are We All There Is? Inside; We Answer Humanity’s Most Uncomfortable Question.

The Universe is much more vast than we can imagine. It has been expanding for over 13.8 billion years,  and some of the very light we observe in the night sky is older than earth itself. And with simple life easy to assemble, and the vast numbers of planets out there, we are forced to wonder. Are we alone? And if not, where is everybody? Well the answer is fascinating, and in some cases, quite terrifying indeed.

“I’m sure the universe is full of intelligent life. It’s just been too intelligent to come here.” – Arthur C. Clarke, Futurist and Writer.

The Fermi Paradox and Kardashev Civilisations

‘In space, no one can hear you scream’ – Alien, 1979

The paradox posed by the apparent absence of intelligent life is called ‘The Fermi Paradox‘. According to the ‘Drake Equation‘, a mathematical prediction of the number of intelligences out there, there should be at least 100,000 species with advanced civilisations.

To speak of ‘Advanced’ civilisations we must first define them. The Kardashev Scale helps us to understand civilisations by their level of energy use. To summarise it quickly, the higher the number, the more advanced the technology and greater the chance the species can travel across the Universe:

  • Type 0: Fails to completely harness power of local planet (us!)
  • Type 1: Harnesses power of local planet (interplanetary species.)
  • Type 2: Harnesses power of local star (interstellar species.)
  • Type 3: Harnesses power of resident galaxy (intergalactic species.)

Alongside the energy use and travel, each jump up the ladder is presented with new challenges. And part of this challenge is why we may not see life out there. With earth relatively young (4.5 billion years or so old,) and the universe so vast, some species may have billions of years head start. So why don’t we see intergalactic fleets? Where is the hidden message from the stars?

We approach the great filters.

Great Filters Of Life

“I felt a great disturbance in the Force, as if millions of voices suddenly cried out in terror and were suddenly silenced.” – Obi Wan Kenobi, Star Wars IV

A ‘Great Filter‘ is a concept designed to explain the paucity of life in the Universe. It is a barrier to a species survival, and its nature is variable dependent on time. And depending on where in the species’ life it appears, it could easily explain our cosmic quandary. And if its happens late, offers a stark warning.

If a filter is early, say, at the transition from single celled to multicellular life, then we have done very well. We have overcome the major universal hurdle. But it also means that intelligent and complex life is exceedingly rare, and conversely single celled life could be everywhere. And given the distance of our nearest stars, and the time period we have been looking, chances are that us spotting another species is pretty much zero.

They are either very far away and their signals or ships have not reached us yet (consider that even at light-speed our nearest star is 10,000 years away,) or something else has claimed them in the mean time. They could have existed 10 billion years ago, and simply died out in a quiet corner far away.

The second most discussed time for a great filter is the transition from a type 0 to type 1 civilisation. At this time a species is likely playing with very dangerous energies, but still subject to internal warfare, religious zealotry and nationalism. It may very well be that no one ever gets this far, as they blow themselves up before they can. Who knows how many potential galaxy faring species have been wiped out in their own nuclear war?

I mean look at us, the leader of the free world is goading a nuclear power with Tweets.

Lost In Transition

“Can there be any question that the human is the least harmonious beast in the forest and the creature most toxic to the nest?”  – Randy Thornhorn, Author.

For us as humans, this is quite concerning. If the great filter is placed here, and the universe is silent, then our chances are pretty low. If in the whole of space time, given even the most restrictive metrics, we hear nothing, then it means most species cannot survive becoming a Type 1 civilisation. We assume here that the transition between 1-2, or 2-3, is easier as war is less likely. But yet, we see nothing to reassure ourselves.

It says something quite profound about intelligence. If life cannot readily pass this transition, it means that intelligence hits a wall. The intraspecies dynamics are too complicated to allow for general progress. The stupid wins out. Its not hard to imagine a far off civilisation annihilating itself over resources, religion or power struggles.

We are judgemental, prone to violence, capricious and short-sighted. If we imagine any of these species to behave like us, it tells a sad story.

But Have Hope

The Great filter only talks about survival, not intent and behaviour. The Universe could be teeming with intelligent life, but we haven’t seen it yet. And there could be good reasons for that.

Perhaps ‘they’ are already here, but we cannot see them. This could be because we simply don’t know what we are looking for. Radio waves are pretty simple, and an advanced species may have moved onto something more reliable. Our skies could be filled with alien messages, ranging from the profound to intergalactic cable, and we would have no idea.

They may not want to see us. Maybe they will only talk with Type 1+ civilisations, because anything less is a waste of time or dangerous. We wouldn’t extend a hand to a lion, so why would they consider us any better? We haven’t proved we can be peaceful even amongst ourselves.  An alien species would consider this option very seriously.

Or perhaps it simply isn’t worth it. Travelling interstellar distances takes generations of time and is likely very costly, and what can we offer? New technology, unlikely? Resources? Its probably cheaper to mine local asteroids. Philosophy, art, music? Perhaps, but what intergalactic government will commission an art research grant tantamount to a million year field trip?

Are We Alone?

‘The universe is a pretty big place. If it’s just us, seems like an awful waste of space.” – Carl Sagan, Contact

Given what we know about the Universe, it seems very unlikely. Simple molecular life is probably not uncommon, but the absence of intelligent life is less reassuring. We may indeed be heading toward a fiery fate, or perhaps will be the first interstellar species out there. One day we might bypass Voyager 1 and say ‘Hello’ to ET first hand (or claw,) but for now it doesn’t seem too likely.

But don’t take it too hard. The Universe is grand, time long and life likely easy. There may be something out there, asking just the same questions. And one day, with a smidge of luck, we can answer those questions for them. Unless we decide to blow them up.

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  • Learn more about great filters in this handy video by Kurzgesagt

The opinions expressed in this article are those of Dr Janaway alone and may not represent those of his affiliates. Image courtesy of Robert Sullivan

Sources

The above sources are true as of 18/3/17. If you would like to discredit them, feel free. It brings us closer to the truth, and I can always cry about it later.

 

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