Lupus

                As far as genetic diseases go, my dad’s side of the family has been mostly worried about lupus. There are multiple people from that side of the family that have lupus: my grandma, four aunts, and two cousins.  The more that I realize that my family members have slowly started to get diagnosed with lupus, the more I worry about this fate being passed on to me. With the possibility of this being in my future, I decided that maybe I should educate myself about this.

Before taking a nosedive into research about lupus, all I really knew about this disease is that it could be passed down through the family and that you could get sick very easily. I have learned this by watching my family members struggle with lupus for years. After looking further into lupus on the May Clinic website, I found out that lupus is a chronic inflammatory disease that occurs when your body’s immune system attacks your own tissues and organs. With this disease, something goes wrong in your immune system to where the parts of the body that fights off viruses, bacteria, and germs cannot tell the difference between your body’s healthy tissues and foreign invaders. The immune system then makes autoantibodies that attack and destroy your healthy tissue, which could lead to inflammation, pain, and damage in various parts of the body. This inflammation caused by lupus can interrupt many of your bodily systems, such as your joints, skins, kidneys, blood cells, heart, and lungs. This disease is hard to diagnose because the signs and symptoms mimic other ailment’s symptoms. A common, distinctive sign of lupus is a facial rash in the shape of a butterfly across both cheeks. My aunt who has the worst case of lupus that I have seen, has this exact rash across her face.

The symptoms of lupus seem pretty common in what you would see in other ailment’s, such as fatigue and fever, joint pain, shortness of breath, chest pain, dry eyes, headaches, but there are other symptoms that stand out, such as the butterfly-shaped rash, skin lesions with sun exposure, and extremities turning white or blue when exposed to the cold. What I have learned by watching my grandma and aunt, and have confirmed through research, is that there are good days and bad days. The bad days are where episodes, known as flares, occur with a worsening of signs and symptoms. These flares fluctuate over time and come and go with the mild version of this disease. After reading about what the disease is and the symptoms, I was pretty curious about what the causes of this disease were. It turns out that lupus is a result of a combination of your genetics and your environment. Someone with an inherited predisposition for lupus, such as my cousins, may develop the disease when they come into contact with something in the environment that could trigger lupus. The cause of this disease is unknown, but there are a few known triggers, such as exposure to sunlight, infections, and certain medications (antiseizure medications, blood pressure medications, and antibiotics).

Like any other disease, there are risk factors and complications. The factors that may increase your risk of lupus include your gender (more common in women), age (most often diagnosed between the ages of 15 and 40), and race (most common in African-Americans, Hispanics, and Asians). The complications from this disease are that your organs and other vital portions of your body may be affected, such as your kidneys, brain and central nervous system, blood and blood vessels, lungs, and heart. Other complications that people with lupus have are infections, cancer, bone tissue death, and pregnancy complications. My aunt has been in the hospital multiple times due to her immune system being so weak and becoming easily susceptible to infections.

From this lengthy list of complications found through research, it is safe to say that it is hard to live a normal life but it is possible with treatment. A few examples of famous people with lupus are Selena Gomez, Lady Gaga, and Nick Cannon. There are more than 16,000 new cases of lupus reported annually across the country and it is believes that 5 million people throughout the world have a form of lupus. There is currently no cure for lupus but there are treatments approved by the FDA. I hope that there are further advances in lupus research to help the many people who are diagnosed with lupus in the world find treatment for a cure or even to find a way to help with an early diagnosis for a better chance to treat it.

Source: http://www.mayoclinic.org/diseases-conditions/lupus/basics/definition/con-20019676

Osteogenesis Imperfecta (OI)

Osteogenesis imperfecta

If you have ever binge-watched Grey’s Anatomy on Netflix or have the patience to watch the season (if not, SPOILER ALERT), you have more than likely seen the episode where April and Jackson found out their baby had Osteogenesis Imperfecta. From that episode on, you can definitely see the fear that the doctors/parents went through because they knew the multiple possibilities and effects the baby may have once it was born. After re-watching the devastating episode of the birth of the baby and the death shortly after indicates the pain that family’s go through when their baby has this genetic disorder. After watching this episode, I decided to look more into this disorder.

According to the National Human Genome Research Institute, osteogenesis imperfecta (OI) is a genetic disorder that causes a person’s bones to break easily often from little to no apparent trauma, which gives it an alternative name “brittle bone disease”. The severity of this disorder varies from person to person, with the severe type resulting in death before or shortly after birth. Addition to the brittle bones, people with OI also have problems with their teeth, hearing loss, muscle loss, loose joints, and skeletal malformations when they are adults. OI is not that common with it occurring in approximately 1 in 20,000 people, with equal frequency among males and females. The life expectancy seems to vary from the lethal form at birth with OI type II to an average life expectancy with health issues.

A majority of OI is caused by a single dominant mutation in one of two type I collagen genes (COL1A1 or COL1A2). These collagen genes provide instructions for making proteins that are used to create a larger molecule called type I collagen, which is the most common protein in bone, skin and other tissues in the connective tissues. OI type VII is caused by recessive mutations in the CRTAP gene. There is currently no cure for OI and there is some treatment for this, such as supportive therapy to decrease the number of fractures and disabilities. This disorder is an autosomal dominant pattern that is inherited and is found be difficult to live with. After reading through the National Human Genome Research Institute website, I understand why parents who discover that their child has this disorder are extremely worried about what type (I, II, III, and IV) their child has because it varies on the severity of the disorder.

Source: https://www.genome.gov/25521839/learning-about-osteogenesis-imperfecta/

Can a Jellyfish Unlock the Secret of Immortality?

I have recently started another binge-watching session on Netflix and started watching the Blacklist. An episode that I was watching had a serial killer researcher who was doing research of immortality and frontal lobe damage on human test subjects. The FBI agents were stumped about what foreign DNA he was injecting into the victims until they went to his lab and found tanks of jellyfish. The ME on scene continued to explain that jellyfish are seen as immortal because they live for a long length of time. I was curious about this statement and wanted to see if this view was actually studied and I found an article that mentions some of the discoveries found by 2012.

                The journey of discoveries of the “immortal jellyfish”, known as Turritopsis dohrnii, begins with Christian Sommer. Sommer was conducting research on hydrozoans and he collected them while scanning the ocean floor. He kept the hydrozoans in petri dishes an observed the reproduction habits, which was that they did not die and that they aged in reverse like Benjamin Button. The seemingly never-ending lifecycle proceeds in the same manner of any other jellyfish, from polyp to medusa. There are slight differences though that gives them the name as immortal begins with a polyp that has buds. The buds swell and sprout medusas, which is where this species differs because the T. dohrnii has a longer medusa state. The other difference occurs when the medusa sinks to the bottom of the ocean floor (or petri dish during research), which is where the body folds in on itself and absorbs the tentacles. The tentacles continue to degenerate until it turns into a gelatinous blob and returns back into a polyp. A regular hydrozoan dies after the medusa stage. This rejuvenation stage occurs due to environmental stress, when the medusa is old, or when the medusa is ill. This rejuvenation of T. dohrnii undergoes cellular transdifferentiation, where one type of cell is converted into another.

                The connection of jellyfish and humans was found by the Human Genome Project, where there were a shocking amount of genetic similarities between jellyfish and human beings. The discoveries of jellyfish and the human genome may have implications for medicine, such as for cancer research and longevity. A molecular paleobiologist named Kevin Peterson began studying microRNA which can act as an on-off switch for genes and regulates gene expression. The hydrozoans provided an opportunity to study the behavior of microRNAs because they are simple organisms and microRNAs are important for biological development. This research with jellyfish DNA could help make advances in cancer research, fighting diseases, fighting old age, and maybe one day even death.

Source: http://www.nytimes.com/2012/12/02/magazine/can-a-jellyfish-unlock-the-secret-of-immortality.html

“Patient Zero” of HIV/AIDS in 1980’s was Globally Defamed by DNA work

            Don’t you hate it when people place the blame on you for something that you are not even responsible for? Imagine how Gaetan Dugas must have felt! Gatean Dugas, a French-Canadian gay man who worked as a flight attendant for Air Canada, was globally labeled as “Patient Zero” of the HIV/AIDS epidemic and was named as the Typhoid Mary for the spread of the virus. Recent investigations into the blood of Gaetan Dugas and other men in the gay culture showed that Dugas was not “Patient Zero”. The blood serum that was stored from the 1980s was investigated and the full genomes of the HIV strains found in the serum indicated that the epidemic begun in the U.S. before Dugas contracted the virus. Dugas died in 1984 and the blame was placed in his direction and he did not have anyone to defend his name until recently in this investigation. The theory behind this mishap was that CDC investigator’s coding system was misread, where Case O57, which means the 57^th case that was found outside of California, was read as a zero to indicate the patient zero. He was basically drawn up as a villain in history because of a misreading.

            Why was HIV/AIDS such a big deal during that time? HIV/AIDS was a new disease in the 1980s that was found to first spread in the gay communities. Once it was found that the disease is sexually transmitted (bodily fluids) and could occur in homosexual interactions as well, the public began to panic about the risk of contracting the disease. A bigger shock was discovered, which was that people could contract HIV through blood transfusions. Even today, HIV/AIDS is a topic that people worry about because there is not a cure. HIV stands for human immunodeficiency virus and AIDS stands for acquired immunodeficiency syndrome. If HIV is left untreated, it can lead to AIDS. Once you have the virus, your body cannot get rid of it completely, which means that you have HIV for life. Many famous people have shared their story about living a life with HIV/AIDS or have died from complications with the disease, such as Charlie Sheen, Magic Johnson, and Eazy-E.

            How does HIV work? HIV attacks the immune system, especially the T cells, which help the immune system fight off infections. Not treating the virus could dramatically reduce the number of T cells in the body and leave the person more susceptible to infection or infection-related cancers, which is an indication that the person has AIDS (the last stage of the HIV infection). Nowadays, there are treatments and medical care, such as medicine known as antiretroviral therapy (ART), that can control HIV to and prolong the lives of people who have HIV. From this article and research done on HIV/AIDS, it can be seen that people need to be educated about this topic or else they will end up panicked, full of fear, or in an extreme case such as this, make false assumptions that could wrongly place the blame of a disease on someone.

Sources: http://www.forensicmag.com/news/2016/10/patient-zero-hiv-aids-1980s-was-globally-defamed-dna-shows

https://www.aids.gov/hiv-aids-basics/hiv-aids-101/what-is-hiv-aids/

Life After Death

Since Halloween is right around the corner, I found it fitting to write about life after death. This doesn’t go along the lines of the Walking Dead craze of zombies. I’m talking about microbes and how they interact with your body after death. An article by Mo Costandi ventures into the idea of what microbes do during the process of decomposition to bodies that are left out in the elements. There are five stages of decay that occur when a body is decomposing: the fresh stage, bloating stage, active and advanced decay stage, and the dry/remains stage. Microbes are found to mostly be active during the fresh and bloating stage of this process.

                The human body acts as a host to many different bacteria and they inhabit in communities in and on our body. A well-known area where a community resides is in the gut. When we are alive, most of our internal organs do not possess microbes. Once we die, however, the immune system stops working and bacteria is allowed to spread freely. The spread of bacteria leads to the guts and soft tissue around the gut to be digested from the inside out. This spread of bacteria around the body to the digestive system, liver, spleen, heart, and brain is known as the thanatomicrobiome (death microbiome). A study of the thanatomicrobiome indicates that samples from different organs in a cadaver were very similar to each other’s microbiome, while samples of the same organ from different cadavers were very different. This indicates that the microbiome varies from person to person based on how they lived before and where they are after they die.

                Another interesting highlight found in this article was that different stages of decomposition are associated with a different composition of cadaver bacteria. The stage of putrefaction, where the breakdown of soft tissues even further into gases, liquids, and salts, indicates a shift in bacteria. This shift is shown by a change from aerobic bacteria to anaerobic bacteria in the body. The shift is most likely due to the lack of oxygen coming through the body now that it is starting to decompose. This stage of feeding on body tissue and fermenting the sugar in them to produce gaseous by-products of methane, hydrogen sulfide, and ammonia leads to the bloating stage. The bloating stage occurs mostly in the abdomen where the gas builds up. From this point on, the insides of the body is more exposed to the elements, especially if the stomach bursts from built-up gas. Insects, scavengers, and other microbes are now involved in the decomposition process and introduce or take away microbes within the cadaveric ecosystem.

                An understanding of the studies of the decomposition process done at body farms, such as STAFS (which is mentioned in this article often), and the composition of the bacterial communities could help forensics teams learn when, where and how a person died. Having a better knowledge of the relationship between the bacterial communities and how they influence one another in the decomposition process along with other outside factors (such as bugs or scavengers) could be a refined tool to help determine the time of death.

Source: https://www.theguardian.com/science/neurophilosophy/2015/may/05/life-after-death

Virus Carrying DNA of Black Widow Spider Toxin

            As we trek through our biology classes, I have found that it sucks to become sick because of a virus but they are very interesting to learn about. This week, I found that biologists at Vanderbilt University published an article where they sequenced the genome of the WO virus, which infects the bacterial parasite Wolbachia, and discovered that the phage carries DNA from a eukaryotic association module. The eukaryotic association module (EAM) is a group of genes that vary in function, which were found in this case to be toxins, host-microbe interactions, host cell suicide, and secretion of proteins through the cell membrane. This was a surprising discovery because EAM has never been reported in bacteriophage genomes.

            To further clarify, there is a difference between eukaryotic and bacterial viruses. Eukaryotic viruses tend to hijack genes that are directly from the eukaryotic host, which is what they use to evade, manipulate, and counter-strike antiviral immune responses. Bacterial viruses, also known as bacteriophages, integrate genetic material from their bacterial host, such as toxins, photosynthesis, and pigment genes that contribute to the fitness of the bacterial host. Phage WO appeared to have a unique content with the cellular exit, entry, and defense mechanisms of the two domains of life.

            Specifically found in the EAM region that is preserved in this bacteriophage is the portion of DNA that is related to the black widow spider toxin gene. Another interesting finding from this sequencing process was that WO shares a number of other segments of DNA with animal genomes, which would be found more in the typical eukaryotic viruses and not the bacteriophages. It is suspected that pores are made in the membrane of the arthropod cells that surround the Wolbachia and allows the phage to overcome the bacterial and arthropod membranes that surround it.

            This discovery can use Wolbachia to fight dengue fever and Zika virus because it prevents the viruses from reproducing in the Aedes aegypti mosquito. Using this approach could help spread the new bacterial parasite through the mosquito population and substantially decrease the spread of the virus. Genetically engineering Wolbachia could further increase the effectiveness against the virus.

Source: Sarah R. Bordenstein, Seth R. Bordenstein. Eukaryotic association module in phage WO genomes from Wolbachia. Nature Communications, 2016; 7: 13155 DOI: 10.1038/ncomms13155

https://www.sciencedaily.com/releases/2016/10/161011131301.htm

Altering the "flavor" of humans could help fight malaria

I personally hate mosquito bites as much as anyone else does. They make you extremely itchy and they puff up into ugly hives if you scratch them too much. Along with the annoying side effects of the bites, they also have the ability to transfer diseases. Malaria has more recently become a threat that people use to get someone to wear bug spray, to avoid mosquito season, and to avoid going outside after a certain time or weather condition. Malaria is an infectious disease of humans and animals that is transmitted by the bite of the female Anopheles gambiae mosquito. Despite the decades of effort put to eradicate and control mosquitoes, there is still an estimation of millions of people that are infected every year. Malaria is seen as a terrifying disease because there is not a vaccine for it. Treatment can be used if the disease is caught early enough, but it is expensive and difficult to transport to the areas where it is needed most. A large amount of effort has been put towards eliminating the stages of parasite transmission or to limit the size of the mosquito population, but not much is known about the A.gambiae mosquito. Most insect research about the olfactory systems is based off of what is learned from Drosophilia melanogaster.

 According to Johns Hopkins Medicine, a study has been done to have a better understanding of how female A. gambiae mosquitoes receive and process olfactory information from their sensory regions by seeing where the olfactory neurons from those regions go to in the brain. The researchers GRP (green fluorescent protein) as a tag to make certain neurons glow green. Those neurons that glowed green were the ones that receive the complex odors through the odorant receptors (OR). The OR is what is used to distinguish humans from other animals. The ORs are located in the antennae and maxillary palps on the mosquito, and the stimulation of the neurons showed a glowing green path to the antennal lobes of the brain. The surprising result was that the other sensory receptor, the labella, showed that the OR neurons went to the subesophageal zone, which is associated with the sense of smell in other flies and insects. Their findings suggest that the sense of smell and taste combine in the brain to create a “flavor” to the mosquitoes, which is what encourages them to bite us. The mosquitoes most likely pick up on the bodily odors and influence them on whether or not they want to bite us based on how appetizing we seem to them.

This research could be important for the future of malaria prevention and also mosquito control. The mosquito control could be done by finding a way to repel mosquitos by either deterring their long range signals by targeting the antennal neurons and make it less likely that they will come close to us or by making us less appetizing in the direct contact by targeting the labellar neurons. A repellant can be made to not smell as bas for humans as other repellants but could smell disgusting to the mosquitos to where they will not bite us. The drop in mosquito bites could potentially starve the females and decrease the mosquito population, while also decreasing the risk of malaria.

Article Source:

Olena Riabinina, Darya Task, Elizabeth Marr, Chun-Chieh Lin, Robert Alford, David A. O’Brochta, Christopher J. Potter. Organization of olfactory centres in the malaria mosquito Anopheles gambiae. Nature Communications, 2016; 7: 13010 DOI: 10.1038/ncomms13010

Cite Page Found:

Johns Hopkins Medicine. “Altering the ‘flavor’ of humans could help fight malaria.” ScienceDaily. ScienceDaily, 10 October 2016. <www.sciencedaily.com/releases/2016/10/161010103830.htm>.