By Ian MacArthur
The shores of Lake Maracaibo are populated by thousands of indigenous Venezuelans that live simply in stilted huts and subsist on the lake’s marine bounty, many in extreme poverty. These societies are archetypal third-world slums, devoid of proper sanitation and other modern amenities. However, the people of Lake Maracaibo are very unique. Before they reach adolescence, many of the villagers begin to make spontaneous, erratic motions. Their arms and legs begin jerking about at random. These symptoms worsen as they grow older and debilitating dementia, hallucinations, and depression set in. Within twenty years of onset, many of these villagers will have died. While most die of pneumonia due to motor and cognitive degeneration, many simply take their own lives to escape unbearable suffering.
The people of Lake Maracaibo are plagued by Huntington’s disease, a rare genetic disorder caused by a mutation in a gene located on the short arm of chromosome four. With a global prevalence of only 5 in every 100,000 people, Huntington’s qualifies as an orphan disease. First identified in 1872 by George Huntington, the disease was first noted for the involuntary, erratic motion of limbs exhibited by patients of the disease.
In the DNA of afflicted individuals, the so called huntingtin gene experiences a repetitive expansion of cytosine, adenine, and guanine nucleotides. This makes Huntington’s a member of a family of genetic maladies termed trinucleotide repeat disorders. The CAG codon codes for the amino acid glutamine, and the presence of more than 36 repetitions of the codon in the gene results in the deformation of the huntingtin protein due to an overabundant polyglutamine domain. While the exact function of the huntingtin protein is not fully understood, the effects of the mutated protein are catastrophic. The over-elongated proteins accumulate in neurons and clump together, disrupting normal cellular processes and eventually leading to widespread cell death. Neuronal death is responsible for the degenerative neurological symptoms of the disease.
Huntington’s follows a dominant mode of inheritance, meaning that only one mutated huntingtin allele is required for an individual to become symptomatic. A parent carrier of the gene has a 50% chance of passing it on to their child. Tragically, the onset of Huntington’s in most patients does not occur until middle age, often after an individual has had children. It is this aspect of the disease that makes Lake Maracaibo such a unique case.
In the town of Barranquitas, on the shores of the lake, researchers discovered adolescents and children as young as nine years old among those suffering from Hungtington’s. It was the DNA of these patients that helped scientists in the 1980s isolate the huntingtin gene based on the hundreds of CAG repetitions it contained. It was thus found that the more CAG repeats a patient had, the earlier he or she would become symptomatic. Although this proved to be momentous in understanding the pathology of Huntington’s, the disease remains an enigma. No cure currently exists, nor does any effective symptomatic treatment. Future methods of genomic and proteomic manipulation may hold the key to finally beating this horrifying disease, and it is in these yet undiscovered methods that the hope of Huntington’s patients lie.
the rise of the superbug
By Alexander Bernstein
The rise of the superbug. No this isn’t your typical Hollywood pamphlet advertising the latest cheesy horror movie. Rather, the rise of the superbug is a factual and serious issue that may cause serious global health problems in the ensuing future. So what exactly constitutes a superbug? No it’s not a beetle in a superhero costume (although that would be rather entertaining). Instead, the much cruder truth is that the so-called “superbug” is a drug resistant bacteria that often cannot be adequately treated even with the most powerful last resort antibiotics. As we approach a “post antibiotic existence” as has been explained by the World Health Organization, the threat of drug resistant bacterial strains is becoming more and more serious.
Of course, as is often the case with humans, we have brought upon this problem onto ourselves. The widespread use of antibiotics for minor and unnecessary issues has led to the genetic selection for resistant bacteria, most notably in India, which as of now appears to be the epicenter of the epidemic.
If no evasive action is undertaken, then the future does most certainly seem quite grim as the WHO Director-General Margaret Chan warns “Things as common as strep throat or a child’s scratched knee could once again kill”. However, it is currently unclear how to deal with this problem as more and more antibiotics are used, or rather overused, in larger than ever quantities. Experts believe that the problem is so severe in India, the country that produces around a third of the world’s antibiotics, due to poor sanitary conditions and a society that condones using antibiotics for the mildest of symptoms and illnesses. Furthermore, due to the expensive nature of some anti-bacterial drugs, many people don’t actually complete the full regiment of, say 10 days, but rather take the pills for 5 and save the rest in an attempt to avoid spending excess money. However, long gone are the days when this was primarily a problem in India, as recent data shows reports of these genetically altered superbugs found in over 40 countries worldwide including France, South Africa, and Canada.
Indeed the consequences of this spread are already pronounced as Europe alone sees around 25,000 resistant bacteria related deaths each year. Furthermore, the toll does not end with just the loss of human life, as an estimated 1.5 billion euros were spent in additional medical costs and losses in productivity. To an already faltering economy, such augmented expenditures can have incredibly deleterious effects.
What can be done about this problem though? If these new resistant strains don’t respond to even the most powerful of antibiotics, than how can we deal with them in an efficacious manner? Unfortunately there exists no simple answer. One of the main problems with these superbugs is their expression of the NDM-1 gene, which, carried by highly mobile plasmids, allows for swift and successful transmission and multiplication. Perfect breeding conditions in India, where antibiotics are treated as cold medicine and nearly half of the 1.2 billion people don’t have access to sanitary restrooms, doesn’t exactly help eradicate the problem either. While there have been some attempts to produce new effective drugs against these microbes, since no such medicine currently exists, Dr Karthikeyan Kumarasamy, a microbiologist from Chennai, and an expert on the superbug epidemic, believes that the best current form of treatment is the spread of awareness and information and the implementation of preventative policies such as frequent hand washing. Making it more difficult to prescribe antibiotics in India’s 100,000 hospitals, as was suggested by the country’s newly appointed antibiotic resistance task force, may also aid in the curbing of superbug spread. New advances will have to be made in leaps and bounds to avoid an imminent outbreak, however, as an estimated near 100 million Indians are already carrying the NDM-1 gene. No matter how this problem originated, as is the case with a highly globalized and interconnected world, it will take an incredibly united international effort to prevent the impeding biological disaster that is to come. At this point we have but just two remaining options: solve the issue we all helped create, or face the disastrous consequences.
the end of the world
By Nate Posey
I have no idea what the Mayans envisioned when they scheduled the end of the world for December 21st of this year. Fortunately for us, Hollywood has put forward a spectacular array of potential doomsday scenarios for our moribund populace to anticipate. From impact meteors the size of Texas to magnetic pole reversals, rampaging super viruses to thermonuclear holocausts, the multifarious threat of human extinction has been held at bay for decades by the heroism of B+ actors. The survival of our species often comes at a heavy cost, however; Roland Emmerich’s genre-defining 2012 devastated movie-goers around the world with wave after mind-numbing wave of digitally rendered destruction shots.
Outside the glare of the multiplex, however, the possibility of a world-wide extinction event has not been wholly relegated to the History Channel’s Nostradamus specials. In an interview for Big Think, cosmologist Stephen Hawking voiced his own concerns for the fate of humanity: “I see great danger for the human race. There have been a number of times in the past where its survival has been a question of touch and go. The Cuban missile crisis in 1963 was one of these.” Regardless of one’s faith in Mesoamerican predictive power, the possibility that the human race’s time on this Earth may be finite is very real. According to astrophysicist J. Richard Gott, such a grim reality is not only possible but statistically probable.
In 1993, Gott used the Copernican method (or Mediocrity Principle) to establish a 95% confidence interval for the duration of the human race, extrapolating our extinction date to be somewhere between 5100 and 7.8 million years from now. As preposterous as the claim first seems, the so-called “Doomsday Argument” is built on relatively modest assumptions. The entire argument relies on the unpleasant reality Nicolaus Copernicus revealed to the world when he kicked the geocentric model of the universe to the curb: you are not special. Astronomers have confirmed that the entire Solar System is nothing if not ordinary in the Milky Way Galaxy. The Mediocrity Principle allows me to say with reasonable confidence that you– yes, you– are not seven feet tall, that you do not own a Lamborghini, and that you’re more than two degrees away from Kevin Bacon. Gott extends this line of thinking to say that, all things being equal, it is extremely unlikely that you are one of the first 2.5% of humans or indeed one of the last 2.5% to be born. Chances are, when the final tally is done, you will fall somewhere in the middle. If we accept that your birth really was more or less random in the scheme of human births, it requires only rudimentary statistics and conservative assumptions about the rise of hominids to arrive at Gott’s results.
For those still shaking your heads, it might be of interest to know that Gott used his reasoning to predict the close of forty-four New York stage productions using only their opening dates with (gasp) 95% accuracy. So who knows? Humanity may really and truly go out with a bang. Personally, I’m hoping for a super flare like the one which incinerated Earth in the 2009 film Knowing (please don’t watch the movie, by the way).