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/