Monday, 30 April 2012

The Genetic Explanation for Addiction

Professor Derek Denton of the Baker Research Institute Melbourne sought to discover the reason for humanity’s many addictions. The answer came from an instinctive trait that has been developed over hundreds of millions of years – sodium appetite.
These ‘instincts’ are “genetically programmed systems in the brain” (Denton), which if found to be advantageous to survival were passed on from one generation to the next.
The natural instinct of sodium appetite coincides with the instinct of thirst, and thus this ‘genetic program’ has been harboured for over hundreds of millions of years.
This natural need for equilibrium in salt, water and energy intake was closely related to the hypothalamus, an area of the brain responsible for much of our instinctive behaviour.
Professor Denton identified the sodium appetite within even the kangaroo. When presented a whole range of solutions containing sodium, potassium, calcium etc. The kangaroos would always prefer the sodium over anything else. This is because for any animal the quickest way of restoring balance in salt, water and energy intake was through a salty solution – particularly for wild animals where they can quickly restore equilibrium and reduce their vulnerability to potential predators. 
He and his team thus sought to stimulate a sodium appetite in mice and observe the genetic patterns within the brain. By giving the animals ACTH (adrenocorticotropic hormone) the team found that the genes activated by sodium deficiency were similar to those of cocaine, opium and heroin addiction in humans. These substances had in fact found a way of connecting themselves to one of humanity’s oldest instincts, the sodium appetite, something that has been “evolved over at least 180 million years”.
Now, one can imagine the possibilities of such a discovery. With knowledge that many of humanity’s addictions are linked to the age-old appetite for sodium, the inhibition of this instinct may possibly become a form of treatment for addiction.
The problem with any addictive substance or behaviour is the satisfaction and pleasure us humans receive from it. This is attributed with Dopamine, a chemical in the brain that programs a form of reward based learning for instinctive behaviour.  Highly addictive drugs such as cocaine or alcohol use Dopamine as a means of deriving satisfaction from their use. This is part of the reason why it is so difficult to discontinue the use of these drugs – these people are actually being tricked into drawing upon an ancient instinct.
Such findings are directly related to the obesity pandemic of modern society. Many of “obesity-generating” foods are packed with sodium, playing upon an ancient instinct.
One of the most prolific substances on a university campus, alcohol and even one of the most basic survival instincts for any species, sex – are all stimulants for Dopamine.
If these urges could be turned off through a form of dopamine inhibition one could imagine the potential for a humanity unhindered by addiction.

Wolfgang B. Liedtke, Michael J. Mckinley, Lesley L. Walker, Hao Zhang, Andreas R. Pfenning, John Drago, Sarah J. Hochendoner, Donald L. Hilton, Andrew J. Lawrence, Derek A. Denton. Relation of addiction genes to hypothalamic gene changes subserving genesis and gratification of a classic instinct, sodium appetite. Proceedings of the National Academy of Sciences, 2011; DOI: 10.1073/pnas.1109199108
The Science Show, presented by Robyn Williams
Professor Derek Denton, Consulting Scientists, Baker Research Institute, Melbourne

Parkinson's cure

Parkinson’s disease is a motor disorder that affects ones control of their body movements, it is a progressive brain illness in which the patient’s condition continues to deteriorate, and it is more common in the elderly population (Reece, et. al., 2012). The disease occurs when nerve cells that produce a chemical called dopamine, die; dopamine helps control function and co-ordination of the body’s muscles, and when the majority of cells that produce it die is when Parkinson’s can be diagnosed. All this happens in a part of the brain called the substantia nigra. Recently breakthrough treatments have been discovered involving the use of stem cells. Stem cells are incredibly useful for scenarios such as this, once extracted they can be grown in cultures; and with the correct conditions can even be genetically modified to differentiate into certain specific cells. The use of stem cells in this manner is aimed at repairing damaged or diseased organs and cells i.e. for Parkinson’s, creating nerve cells that will begin to produce dopamine and aid a person in muscular and body control (Reece, et. al., 2012, pp422).
Description: possible new treatment for Parkinson’s disease is currently still being tested on monkeys. The treatment involves injecting human stem cells into the brain of a monkey that is showing symptoms of Parkinson’s. There have been multiple tests like this done. The tests were to determine whether monkeys showing symptoms similar to those of Parkinson’s disease (i.e. loss of ability to walk or climb) would react to human stem cells being injected into their brains. The monkeys were graded according to the severity of their conditions, and in the most severe cases; those they graded Stage 5 (severely parkinsonian), which corresponds to Stage 5 of Parkinson’s disease in humans (Redmond et. al, 2007, pp12176), the monkeys regained some movement and ability to control their bodies.
It is worth noting however, that Stage 5 monkeys did not recover as well as the monkeys with less severe symptoms. The stem cells were allowed to develop into an early form of neural cell before they were injected into the monkey’s brains. Once the cells were injected they developed into fully functional dopamine secreting cells that eased the monkey’s symptoms and the monkeys regained between 20 and 45% of the movement they had lost before treatments began (New Scientist, 2012). A similar study, but conducted on rats also showed promising results. The rats were induced with a Parkinson’s like syndrome, and like the monkeys, were injected with neurons that secreted dopamine, which led to a recovery of movement (Reece, et. al., 2012).
In conclusion, using stem cells to form dopamine-secreting cells is an effective and efficient way to ease the suffering brought on by Parkinson’s disease. Although only animals are currently being tested it looks to be a promising and exciting genetic breakthrough which could lead to finding a permanent cure for Parkinson’s, as well as being able to reverse the effects and make life easier for those currently suffering.

A Bright Future for Migraine Victims

I think it is safe to say that many, if not all, of you have experienced a severe headache or migraine at some point throughout your life. If not consider yourself lucky as you may be among the one percent of the population who escape them all together (Evans 2012). Migraines are currently ranked in the top 20 diseases in terms of ‘years lived with disability’ (World Health Organisation 2004). Now migraines are more than a severe headache, they are actually a neurological disease. Additionally recent studies have found that they are a genetic disease (M.A.G.N.U.M 2012).
Figure One: Migraine Victim (Kennedy, S 2010)
A study in 2010 lead by the International Headache Genetics Consortium at Britain’s Wellcome Trust Sanger Institute found an allele that could be responsible for migraines. It is the allele known as rs1835740 (France-Presse 2010). Whilst saying this really doesn’t mean anything to you, it is actually very important in the way the brain functions. It is when this allele is not performing its best that it allows glutamate to build up around brain cells causing them to expand resulting in a migraine. Glutamate is basically a signal messenger for the nervous system. This particular allele mentioned before is thought to keep amounts of glutamate under control. (Danbolt 2001).
Figure Two: Glutamate build up causing migraine (Dubè 2012)
Recently studies conducted by Markus Schuerks of Brigham and Women’s Hospital have found that some of the genes that are responsible for migraines are more frequent in women. It is believed that migraines are three to four times more common in women than men with inheritance playing a major role in this point. This international study of a variety of different women analysed the genomes of 23,230 women with 5,122 of them suffering from regular migraines. It found three genes that were more common in the victims than the non sufferers.  The three genes are PRD16, TRPM8 and LRP1. This study now concluded that the first two are recognised to be specifically related to migraines over any other type of headache. Furthermore, it is the TRPM8 gene that is the link between migraines and women. (France- Presse 2011)
The research states that by even inheriting one of these three genes it could increase your risk of frequent migraine exposure by 15% (France – Presse 2011). This study is not enough solid evidence to start using these genes as a diagnostic method but it does give a better insight to migraine biology. The study also helps to differentiate between men and women more than just hormone levels and lifestyle factors (France – Presse 2010). This could just be the beginning of further study that one day might find a better treatment or cure for this disease that impacts a large number of the population. 

Reference List
Danbolt, N 2001 Glutamate as a neurotransmitter, 2001 viewed 17 March 2012
Dubè, T 2012 Genetic Trouble (figure two), viewed 18 March 2012
Evans, R 2012 Migraine Statistics, 2012 viewed 18 March 2012
France – Presse, A 2011 Gene linked to migraines is exclusive to women, media released, 13 June, viewed 16 March 2012,
France – Presse, A  2010 First gene link to common migraine found, media released, 30 August 2010, viewed 16 March 2012,
Kennedy, S 2010 Did You Know Fall Weather Can Trigger Migraines? (figure one) viewed 18 March 2012
World Health Organisation 2004, Headache Disorders, March 2004 viewed 17 March 2012

Caffeine suppressed gene provides further development in skin cancer prevention

Caffeine suppressed gene provides further development in skin cancer prevention - Kenneth Lopez-Loo

Recent studies showed that caffeine could be added to sunscreen to provide additional protection against UV rays. Over-exposure to UV rays damages the DNA of skin cells causing an error in replication. Hence, causing skin cancer. Conney’s experiment focused on the gene Ataxia telaniectasia and Rad3 related (ATR) and its suppression under the presence of caffeine and this phenomenon effects UV damaged cells and skin cancer (Conney et al., 2011).

According to GeneCards (2011), the ATR gene codes for a protein kinase that serves as a checkpoint that prevented cells with damaged DNA to undergo the cell cycle. As a kinase, it sits along the outer membrane of cells, awaiting the targeted molecule to bind to its receptor in order for it to activate. (Campbell, 2012, p.216) The ATR kinase activates when it experience DNA stresses like UV rays and caffeine and when active, it facilitates DNA damage repair (Conney et al., 2011).

Typically, damaged cells undergo apoptosis, where the cell breaks up all its organelles and genetic material into small vesicles, disabling itself. This process of cellular suicide prevents the damaged cell from affecting its neighboring cells or replicating its error (Campbell, 2012, p.227). Therefore apoptosis is a highly effective method of eliminating potential cancerous cells before it has a chance to replicate.

When a cell gets DNA damage from UV rays, the damaged cell would seize all other functions and start repairing its genetic material; this process would be activated by ATR. If ATR were to be suppressed or inhibited, the cell would undergo apoptosis instead of going into repair, this wipes out the defective cell along with its defective genetic material (Kremer et al., 2007). Hence, lowering the chances of getting skin cancer. The notion of whether suppressed ATR played a significant role in UV damage tumorigenesis was tested by Conney’s experiement.

Conney’s study tested 2 groups of mice; one as a control and the other, an ATR deficient genetically modified mice. The GM mice with the suppressed levels of ATR were meant to act as a model for the intake of caffeine (to suppress the ATR activity) as compared to the control, which had zero alterations to the ATR gene. Both groups were chronically exposed to UV rays and the results revealed that after 19 weeks of exposure, the GM mice have 69% fewer tumors as compared to the control. In addition, the GM mice started developing tumors 3 weeks later than the control. This result highly supported Conney’s hypothesis of “the inhibition of ATR function would lead to the suppression of UV-induced tumorigenesis” (Conney et al., 2011).

As ATR gets suppressed in the presence of caffeine, cells with UV damaged DNA would go through apoptosis instead of DNA repair. This way, the DNA damaged cells that might have failed at DNA repair would be destroyed, ultimately lowering the susceptibility to obtaining skin cancer (Conney et al., 2011).. Therefore the addition of caffeine into sunscreen could enable the topical application of caffeine that would suppress ATR in skins cells. Further development would be required with regards to the whether the consumption of caffeine would have the same results as direct application (Conney et al., 2011).


·      Campbell, N. et al. (2012) Campbell Biology. 9th ed. Australia: Pearson, p.214-216, 227.
·      Conney, A. et al. (2011) Protection from UV-induced skin carcinogenesis by genetic inhibition of the ataxia telangiectasia and Rad3-related (ATR) kinase. PNAS, 108 (33), p.1-5.
·      GeneCards (2011) ataxia telangiectasia and Rad3 related. [online] Available at: [Accessed: 16 March 2012].
·      Kremer, B. et al. (2007) Septins Regulate Actin Organization and Cell-Cycle Arrest through Nuclear Accumulation of NCK Mediated by SOCS7. CELL, 130 (5), p.1.

Gene Therapy for Haemophilia B

Gene Therapy for Haemophilia B - Kyle Wong
Famous for its inheritance down the royal bloodlines of Queen Victoria, Haemophilia B has long since remained an incurable genetic disease (D.J. Roberts 2012).

Haemophilia occurs when sufferers have a damaged gene which causes its sufferers to not produce Factor IX, a plasma coagulation protein which stops bleeding in normal human beings. Haemophiliacs suffer from excessive bleeding due to their blood being unable to clot properly. Imagine that! They could quite literally die from something as small as a papercut. Up until now, this disease has been treated by the injection of the coagulation factors and recombinant proteins when a bleed occurs in order to cause the wounds to clot. (PubMed 2010)

This process however is prophylactic, that is it a preventative, protective measure, rather than a viable cure (Nathwani et al 2011). Now what happens is that those who donate blood have their blood separated by centrifugation, and from the plasma, products with Factor IX can be made and given to haemophiliacs.
There are two main problems with the status quo of treating Haemophilia B patients:
  • 1.       The process has to occur regularly, 2-3 times a week. The estimated cost of the procedure for just one year is roughly $300,000 (Wade 2011)
  • 2.       There is a chance that disease can be transmitted from the donors to the recipients via the donated plasma.

However, a new gene therapy procedure has been developed that can replace the defective genes and effectively cure haemophiliacs.

What is Gene Therapy? Gene therapy involves the extraction of a defective gene in the DNA and replacing it with the correct form, through the use of a vector, a way for the gene to be transported into the cells (Wade 2011)

Previously, gene therapy had remained relatively ineffective because the body would destroy the virus vector before it could deliver the gene. But here’s where the scientists have been able to do something really cool. Scientists have been able to manipulate virus vector in a way which limits the chances of the body having a negative immune response. Scientists have been able to encourage the positive reception of the gene by doing four things:

  1. 1.       Treating the patients with steroids that supress the immune system and lower the chances of an immune response
  2. 2.       Enhancing the expression of Factor IX through a process called codon optimization
  3. 3.       Pseudotyping the adenovirus-associated virus vector, meaning the virus is combined with a foreign viral membrane with specific glycoproteins that will bind to liver cells
  4. 4.      Injection of viral vector into the peripheral vein of the body, allowing access to the liver (Nathwani et al. 2011)

Once injected into the body, the virus targets the liver cells where Factor IX is normally produced. The viral envelope merges with the cell membrane releasing its contents into the cell. The correct form of the gene enters the cell’s nucleus and combines with the genetic material. The patient is then able to produce Factor IX (Nathwani et al. 2011).

Figure 2: U.S. National Library of Medicine
This method is still currently being researched and if successful, this process will radically change the treatment of haemophilia, from the expensive frequent procedure it is now, to the single injection required for a lifetime.

Gene Therapy – Cortical Studios: a video on how gene therapy works.

  • ·         Amit C. Nathwani et al. (2011). Adenovirus-Associated Virus Vector - Mediated Gene transfer in Hemophilia B. Available: Last accessed 14 March 2012.
  • ·         Nicholas Wade (2011). Treatment for Blood Disease Is Gene Therapy Landmark. Available: Last accessed 15 March 2012
  • ·        PubMed Health (2010) Available: . Last accessed 15 March 2012
  • ·         D.J. Roberts (2012). New genes for old: successful gene therapy for haemophilia B. Available: Last accessed 15 March 2012
  • ·        Image courtesy of the U.S. National Library of Medicine. Accessed via amfAR (2009). Probing the Untapped Potential of Gene Therapy. Available: Last accessed 15 March 2012.
  • ·        Image courtesy of Haemophilia Foundation Australia. Bleeding Disorders – Haemophilia. Available: Last accessed 15 March 2012

p53 “Guarding of the Genome”; Applications in Fertility and Cancer Treatments.

Nearly every cell in the human body undergoes cell reproduction. These cells are exposed to all kinds of environmental factors that cause mutations in the DNA in cells. Researchers have unravelled how the “Guardian of the Genome” plays a vital part in preserving cellular integrity. This new insight could lead to many potential applications in fertility treatments and cancer therapies.[2][4]

(Figure 1: Inhibitation of cell cyle in damaged cell due to p53, Source [1])

What is the “Guardian of the Genome”?
In a cells reproduction cycle, before a cell can divide, it is examined for any cancer-stimulating mutations by the key regulator gene, p53, which when present promotes transcription of proteins that suppress cell division.[2] Under these circumstances, if the mutation is repairable, it will then recommence its cell reproduction cycle without spreading the mutation. If the mutation is irreparable, p53 will commence apoptosis – automated cell death.[1] This vital process is important in protecting the wellbeing of the genome; hence p53’s title “Guardian of the Genome”. [2]

p53 uses in Contraception and Fertility Applications.
Recently, research at Yale University has revealed that p53 is controlled by Pumilo 1 during Spermatogenesis – sperm cell formation. Pumilo 1, which in sperm production, controls eight RNA molecules that interact with p53.[2] This was discovered through the Yale scientists study of sperm production in mice. In their experiment, when Pumilo 1 is genetically removed, p53 is activated in a form of overdrive and commences apoptosis in many sperm cells, leading to reduce sperm count and reduced fertility.[3] This relationship between p53 and Pumilo 1 could be used as a form of contraception. The same principle could be adapted for individuals that suffer from natural low sperm counts, by possibly reducing the amount of p53 through Pumilo 1 manipulation. However, this scenario could lead to cancer-stimulating mutation being overlooked and even lead to deformations in sperm and potential offspring.

(Figure 2:Compaison between Active p53, Inactive p53 and Reactivation of p53, Source [5])

Cancer therapies by reviving deactivated p53 gene.
With p53 being such an important aspect in natural prevention of cancers, lack of or defection in this regulator could lead to catastrophic consequences, with approximately over half of human cancers having mutated p53.[1][4] MIT Cancer researchers are currently working on a drug to manipulate p53 to supress tumours.  In 2010 they genetically engineered a variety of mouse with inactive forms of the p53 gene that could be reactivated once a tumour had developed. [4]Through their experimentation they discovered that the more malignant the stage of cancer, the higher the success rate of apoptosis in the cell through reactivated p53. Benign tumours unlike malignant varieties don’t exhibit symptoms such as uncontrolled growth and therefore don’t attract the same level of attention of p53.[4] It’s not a cure for cancer but it may well be another potential tool in cancer treatment.

In conclusion, p53 has earned its title as the “Guardian of the Genome”. However, this particular key regulator, and those in conjunction with it, could lead to many applications in fertility treatment; birth control and cancer therapies. Although these applications are not yet able to put in to practise, further research is on the way to showing some promising discoveries.

Reference List
  1. Reece, J. B., Meyers, N., Urry, L.A., Cain, M.L., Wasserman, S.A., Minorsky, P.V., Jackson, R.B., Cooke, B.N., 2011. Campbell Biology. 9th (Australian Version) ed. Pearson Australia Group Pty Ltd.
  2. Hathaway, B 2012, Secret of sperm quality control revealed by Yale scientists, media release, 16 February,  Yale News, viewed 2 March 2012,  < >.
  3. Haifan, L., Dong , C., Wei, Z., Aiping, L., Katherine, U., Hongyu, Z., 2012, Pumilio 1 Suppresses Multiple Activators of p53 to Safeguard Spermatogenesis, media release, 16 February, Current Biology, viewed 2 March 2012, <>.
  4. Trafton, A., 2010, Biologists find that restoring the gene for cancer protein p53 slows spread of advanced tumours, media release, 25 November 2010, MIT media relations, viewed on 8 March 2012, <>.
  5. 2008, p53 image, media release, 5 March 1998, viewed 8 March 2012, <>.

Sunday, 29 April 2012

Glowing Discoveries for Pets of the Future

Glowing Discoveries for Pets of the Future

Megan Danslow

Imagine going to the pet shop and being able to design the ‘perfect pet’; perhaps it’s a cat without allergens or maybe… it’s a glow-in-the-dark fish!

A recent article published by ‘The New York Times Company’ suggests that these ‘dream pets’ are not so far from existence. Since the 1970’s, scientists have been working with, and attempting, to manipulate organisms and their genetic components in order to create practical and useful products [7]. Biotechnologies, including genetic engineering, will forever continue to form the foundation of future generations of discoveries and medical advances [6].

"There will be no need for aquarium lights - fluorescent fish will provide their own illumination” [2]

In 2003, researchers from the National University of Singapore attempted to make the organs of zebra fish easier to see and identify for studying purposes [1]. The result of their attempts has been described as “a miracle of science” [1]. Through recombinant DNA technology, a process in which DNA molecules are formed from the combination of segments of DNA from two different sources, [7] scientists have developed a ‘genetically engineered pet’ [1].

The gene behind it all – 
Green Fluorescent Protein Gene

A naturally occurring gene, the green fluorescent protein gene (GFP) [6], derived from marine organisms such as jellyfish and anemones, has been proven to give the normally black and silver zebra fish a brilliantly colored, fluorescent appearance [1]. There are several constructs of the gene that each encode different colored phenotypes, producing differently colored transgenic fish. The GFP gene is isolated and extracted from the gene-donor marine organism and microinjected into the egg of a zebra fish [2]. The gene is then integrated into the genome of the embryo, resulting in the hatching of a fluorescent transgenic (genetically engineered) zebra fish [5]. The foreign genes become a part of the genetic makeup of the newly hatched fish and thus the fluorescent trait will be passed on to future generations through regular breeding [5].

General Procedure of Transgenic Fish

Changing the appearance of an organism is just one of many affects that DNA technologies can have. Since 1985, thirty-five different species of fish have been genetically engineered [3]. Working with fish rather than mammals is advantageous because of the large number of eggs produced by females, out-of-mother embryo development and a lower probability of carrying human pathogens [3]. These advantages have led to active research programs based on fish in many countries for purposes of medical research, food production and advances in genetics [3]. Fish have been particularly beneficial in providing understanding into cellular disease developments, cancer and nicotine addictions [5].

Reference List:
7. Campbell, Reece, Meyers, Urry, Cain, Wasserman, Minorsky & Jackson, 2009, Biology, 8th edn, Pearson Education Australia, New South Wales.

4. Hubmayr, Y 2009, Zebrafish Genetics, Online Magazine, Mayo Foundation for Medical Education and Research, viewed 15 March 2012, <>.

2. McKie, R 2003, 'Fluorescent fish' give the green light to GM pets, Electronic Article, Guardian News and Media Limited, viewed 15 March 2012,  

1. Pollack, A 2003, Gene-Altering Revolution Nears the Pet Store: Glow-in-the-Dark Fish, Electronic Article, The New York Times Company, New York, viewed 15 March 2012, <>.

6. Pray, L 2008, Recombinant DNA Technology and Transgenic Animals, Nature Education, viewed 15 March 2012, <>

5. Yorktown Technologies 2010, GloFish: Experience the Glo, Yorktown Technologies, viewed 15 March 2012, <>.

Image Reference List:
3. Hubmayr, Y 2009, Zebrafish Genetics, Online Magazine, Mayo Foundation for Medical Education and Research, viewed 15 March 2012, <>.

1. Humans Create Synthetic Life 2010, Science-ology, viewed 15 March 2012, <>.

2. Jogaleka, A 2008, A Many-colored Glass; the Glow of Life and the Joy of Discovery, ScienceBlogs, Germany, viewed 15 March 2012, <>.

Fruit fly bearing Fruit for Science

Fruit fly bearing Fruit for Science

Figure 1: Drosophila melanogaster (Press, 2012)
Flies – you may know them as those pestering, inconsiderate harassing little insects constantly steering into our food supplies. Who would’ve known they may be one of science’s most valuable assets.  Fruit Flies in particular, are the world’s worst pest of fruits and vegetables - economically uncharitable beings causing millions of dollars’ worth of economic damage. However we mustn’t forget the gifts these little creatures provide us.   Drosophila melanogaster, the common fruit fly has historically been the subject of extensive experimentation. Only recently has this eukaryote genome been fully sequenced, sharing high correspondence with human genetic instructions. This pest allows scientists to ethically experiment on topics out of the question on human subjects people. On 13th March 2012, an article labelled “Studying Drosophila Advances Research into Human Diseases” was published. Three illnesses; Ataxia-telangiectasia, Rett Syndrome and Kidney Stones are discussed regarding their current progress.

Figure 2: Ataxia-telangiectasia symptom - Dilated blood vessels
Ataxia-telangiectasia (A-T) is a “rare childhood neurological disorder that causes degeneration in the part of the brain that controls motor movements and speech.” (National Institute of Neurological Disorders and Stroke, 2011)  By using genetic screens to mutate the flies, scientists can draw correlations demonstrating the debilitating effects of A-T on the Drosophila.  This was seen   when the mutated flies couldn’t climb up the sides of their vial habitats. From these observations, it showed that glial cells are primarily affected rather than the neurons that the glia support. (Genetics Society of America, 2012) However the findings were also indicative of Alzheimer’s and Parkinson’s diseases as a distinctive immune response activated in the comprised glia. (Genetics Society of America, 2012) So despite experimenting for Ataxia-telangiectasia (A-T) it has now assisted with the development and treatment of diseases concerning the glia.

Figure 3: Rett Syndrome (sanödox, 2011)
 Rett syndrome is a “childhood neurodevelopmental disorder that affects females almost exclusively”; affecting muscle tone, slow development and compulsive motor functions. (National Institute of Neurological Disorders and Stroke, 2011)  In the experiment, the human gene MeCP2 is modified into the Drosophila’s genome which regulates the amount of protein production.  Protein production is associated with the X chromosome so either a deficit or excess can cause Rett Syndrome.  MeCP2 exhibits different effects for the fruit fly but associations can still be drawn to humans.  Behaviours such as aggression and sleep patterns were altered in the Drosophila.  This may therefore help diagnose numerous diseases concerning behaviour and motor functions.

Figure 4: Kidney Stones  
(Remedies for Kidney Stones, 2010)

A kidney stone is a “hard, crystalline mineral material formed within the kidney or urinary tract” which “commonly causes blood in urine and often severe pain in the abdomen, flank, or groin.” (Melisa Conrad Stoppler) Nowadays, treatments are already available for this disease but if we know the genetic causes we can prevent its development.   “Rosy”, the name of a mutant fly has recently been found showing the rare human inborn error of metabolism called xanthinuria type 1 along with calcium oxalate kidney stones.  (Genetics Society of America, 2012)  To cause the development of kidney stones in humans is horribly unethical however scientists can now search for chemical compounds to interfere with formation of these obstructions and test for cures.  

Without Drosophila melanogaster, such recent advances in genetics would not have been possible.  This pesky organism is a priceless resource for humankind, sharing manageable chromosomes and around 2/3 of our genetics.  It is economically viable and an ethical alternative opposed to exploiting humans.  Possibilities are infinite when utilising this resource for countless experiments as it is beneficial for understanding diseases.   With a strong research community sharing reagents, disease management and cures will be the outcome. Drosophila melanogaster is an invaluable test subject to humankind.

Department of Agriculture, Fisheries and Forestry. (2007, April 23). Exotic fruit flies. Retrieved March 17, 2012, from Department of Agriculture, Fisheries and Forestry:
Genetics Society of America. (2012, March 13). Studying Drosophila Advances Research Into Human Diseases. Retrieved March 15, 2012, from Medical News Today:
Melisa Conrad Stoppler. (n.d.). Kidney Stones (Renal Stones, Nephrolithiasis). Retrieved March 14, 2012, from Medicine Net:
National Institute of Neurological Disorders and Stroke. (2011, November 25). NINDS Ataxia Telangiectasia Information Page. Retrieved March 14, 2012, from National Institute of Neurological Disorders and Stroke:
National Institute of Neurological Disorders and Stroke. (2011, August 16). NINDS Rett Syndrome Information Page. Retrieved March 14, 2012, from National Institute of Neurological Disorders and Stroke:
Oxford Medicine. (n.d.). Retrieved March 17, 2012, from Oxford Medicine:
Press, W. F. (2012, January 12). Retrieved March 17, 2012, from Pest Control CEU's:
Remedies for Kidney Stones. (2010, September 23). Kidney Stone Fragments. Retrieved March 17, 2012, from Remedies for Kidney Stones:
sanödox. (2011, July 8). What is Rett syndrome? Retrieved March 17, 2012, from sanödox: