Vitiligo is a skin disorder characterized by patches of nonpigmented skin. Its causes are unknown, but it may be linked to genetics. The genetics of vitiligo cannot be explained by simple Mendelian genetics; it is characterized by incomplete penetrance, multiple susceptibility loci and genetic heterogeneity. It may also be linked to overactive autoimmune responses. There is no known cure for vitilgo but there are many treatment options available.
The pigment of skin is determined by melanin. The activation of melanocytes in the melanin determines the darkness of the skin. Individuals with vitilago have immune systems that attack these melanocytes. This in turn causes a loss of pigmentation in the skin.
There are various forms of vitilago including generalized vitiligo, universal vitiligo, and focal vitiligo, . Generalized vitiligo is the most common and wide ranging and has highly random distribution. Universal vitiligo involves depigmentation of most of the body. Focal vitilago has a few scattered spots and is most common in children.
The other night, my girlfriend and I were watching an episode of "Shark Tank". I'm not sure if any of you have heard of this show, but the premise is people try to pitch business ideas to a group of moguls. Based on the persuasiveness of the presentation, the judges decide if they want to invest in the business or not. On this particular episode, there was a guy named Oliver Noel who is the CEO and founder of DNA Simple. Noel is a geneticist who is currently studying for his M.D. and Ph.D. at Pennsylvania State University's College of Medicine. He is a Haitian immigrant who moved to the United States after the devastating earthquakes that struck Haiti in 2010. He worked his way through college attaining a Bachelor's with a double major in Chemistry and Biochemistry and a Master's. Throughout his time as a undergraduate, graduate, and doctoral student Noel noticced that is was quite difficult to find sufficient amounts of human DNA for genetic research. This may be due financial and geological limitations. During the pitch Noel stated "Some researchers, in a five-year grant, you spend three to four years to recruit people," he explains. "Literally there are studies that die because — let's say you're doing a study where you need 1,000 blacks or Hispanics. I'm in Hershey, Pa. No offense, it would take about 100 years to get those people." He went on to say that less than %5 of clinical trials have minorities in them. This is very difficult for geneticists because this shows that there is not enough genetic variability available to properly conduct effective genetic research. This is very alarming, because without this vital research there may be no way to stop future pandemics. The basic business model of DNA Simple is to provide sufficient amounts of DNA for various genetic studies. This is done by allowing volunteers to register online and enter their personal and family medical histories. If this information lines up with a study that needs individuals with similar backgrounds, the volunteer will be sent a at home swab test. As compensation for participating in this research, they will be paid $50. And for every study their DNA is used for, they will be paid another $50. And it is all 100% anonymous. This is very similar to blood and plasma banks. This company could be revolutionary in genetic research and disease control. One of the judges, billionaire Mark Cuban, was so intrigued by the business that he decided to invest $200,000 of his own money into the company. I would want to make some extra money, I left a link to register for DNA Simple down below.
In 1989. the blockbuster film "Back To The Future Part II" was released. The movie is the sequel to "Back To The Future" and is about the time-traveling adventures of teenager Marty Mcfly (portrayed by Michael J. Fox) and scientist Dr. Emmett "Doc" Brown (portrayed by Christopher Lloyd). The protagonist travel fowards and backwards in time. In the film, they travel to 2015 and are pursued by villians. While fleeing, Marty Mcfly dons a pair of sneakers called "Nike Air Mags" which are able to lace on their own and possess their own power source.
These shoes would eventually take on a life of their own and would gain a cult following clamoring for their eventual release. In 2015, Nike announced that they would be auctioning pairs of the shoes for The Michael J. Fox Foundation. The Michael J. Fox Foundation is a charitable organization that is attempting to find a cure for Parkinson's Disease.The shoes came equipped with a self-lacing system and lights inside of the out sole. The auctions garnered tons of attention, and one pair sold in New York for $200,000 (!?). Other pairs sold in Hong Kong for over $100,000 and in London for $56,000. The shoes have been released a few times, and have made quite a bit of money for the Foundation. Michael J. Fox has been diagnosed with Parkinson's Disease since 1991. Other notable individuals that have had Parkinson's are Muhammed Ali and Janet Reno.
Parkinson's Disease is disorder is a long term neurodegenerative disorder that mainly affects the motor system. Symptoms usually begin with shaking, rigidity, and difficulty speaking. The symptoms eventually worsen with the individual losing control of many motor facilities. This neurodegeneration is the result of the deterioration of the subtantia nigra (a region of the midbrain) by the lack of the precence of dopamine. The causes of the disease are unknown, but there have been some connections found between Parkinson's and genetics. The disease may be caused by a mutations in various genes including SNCA, LRRK2, GBA, PRKN, PINK1, PARK7, VPS35, EIF4G1, DNAJC13 and CHCHD2. Parkinson's Disease also affects lysosome function, which leads to an excess build up of cell waste products. This build may interfere with and impair cell functions. There is no known cure for Parkinson's Disease but there has been promising developments in stem cell research.
In one of my earlier blogs, I spoke about the future implications of CTE (chronic truamatic encephalopathy) on professional sports. One of the most notable cases of brain damage involving a professional athlete is that of Aaron Hernandez. Aaron Hernandez was a former tight end for Florida (where he was an All-American) in college and the New England Patriots, where he played 3 seasons until his football career abruptly ended. In 2013, Hernandez was arrested for the murder of Odin Lloyd, a minor league football player and the boyfriend of Hernandez's girlfriend's sister. Hernandez would also be indicted for another homicide that resulted in the deaths of 2 men in Boston. Hernandez was eventually convicted in the murder of Lloyd and was sentenced to life in prison. Days after being acquitted of the double homicide, Hernandez hung himself in his prison cell. His conviction in the Lloyd homicide was vacated due to a techincal loophole.
It was later revealed that Hernandez donated his brain to scientific research. While alive, he had expressed his belief that he was suffering from CTE and would like to confirm his suspisions after his death. As I stated in my previous blog, CTE can only be confirmed after death because it requires extensive biopsies of the brain. Recently Dr. Ann McKee, the director of the BU CTE Center and chief of neuropathology for the VA Boston Healthcare System, revealed the results of the studies she has been conducting on the brain of Aaron Hernandez. She stated that Aaron Hernandez's brain was the worst she has seen for a person his age, and that the amount of injuries that he had sustained took years. The damage was even down to the microscopic level. In the picture below, each brown spot represents an injury and the holes represent serious brain trauma.
This study may be used as evidence in future litigation against the NFL and may also bring about changes to the NFL's rules and business practices. This also shows that person with a relatively short career can sustain serious brain injuries that may bring about erratic behavior. Hernandez's wife attests that her deceased husband's CTE caused him to commit murder and to act impulsively and erratically. Another notable NFL player, Hall of Famer Junior Seau, stated that he felt that he was suffering from CTE before committing suicide. His brain was also examined and it also showed signs of severe trauma and CTE.
To commemorate the recent World Series victory of the Houston Astros, I thought that it would be appropriate to discuss a disease that had a monumental effect on not only baseball, but the world as a whole. In 1939 "The Iron Horse" Lou Gehrig, who was only 36 years old, was diagnosed with ALS (Amyotrophic Lateral Sclerosis) a fatal neurodegenrerative disease and was given a dire prognosis of only a few years to live. Lou Gehrig was in the prime of his career and was arguably the greatest baseball player of all time with the most grand slams and the longest consecutive streak of games played (2,130), a record that stood until 1995 (broken by Cal Ripken Jr.). Gehrig was forced to retire and gave a heart-wrenching farewell address in front of over 60,000 fans in Yankees Stadium. He would tragically die 2 years later at the age of 37. He also holds the honored distinction of the the first athlete OF ANY SPORT to have his number retired. The beloved Lou Gehrig gave a face to this debilitating disease, and through his bravery, class, and humility he was able to be an inspiration to anyone facing an obstacle or hardship in life.
ALS is a neurological disease that deteriorates the motor neurons of the brain. The symptoms initially begin with difficulty with writing, talking, and walking. Eventually, the sufferer loses control of all muscular functions including breathing. In fact, 90% ALS cases die from respiratory failure. The cause of ALS is unknown and there is no cure. The occurrence of ALS is extremely rare with only 20,000 new cases per year. 10% of ALS are inherited while the other 90% are sporadic, or of unknown origin. The average survival from onset to death is 2 to 4 years. Some can live longer if diagnosis and treatment begins early on. One of the famous individuals with the disease, Stephen Hawking, has lived with ALS since 1963. There are various methods of diagnosis including blood and urine tests, nerve conduction study, spinal tap, and muscle biopsy.
Alzheimer's Disease is a form of dementia that causes memory loss, cognitive impairment, progressive neurodegeneration, and erratic behavior. I have a personal connection to Alzheimer's because my grandmother was diagnosed with the disease when I was a child. I saw for myself the severe neurodegenerative effects that Alzheimer's can have on all facets of life.Alzheimer's Disease is the most common form of dementia accounting for approximately 60%-80% of dementia cases. Despite this statistic, Alzheimer's is not a normal part of aging. The disease progressively worsens over time with symptoms ranging from memory loss to complete loss of bodily functions. Alzheimer's is the sixth largest cause of death in America, and there is currently no known cure. There are some treatment options available. Hopefully there will be more viable treatment options available for individuals that are suffering with this terrible disease.
Alzhemier's Disease is caused by the formation of amyloid-beta-containing plaques and neurofibrillary tangles composed of hyperphosphorylated tau protein. Tau proteins are proteins that stabalize microtubules. They are very common in neurons, but are not found in abundance elsewhere in the body. A number of other signaling proteins are also included in the progressive neurodegeneration of Alzheimer's including glycogen synthase kinase-3-beta and cyclin-dependent kinase-s.
Lorenzo's Oil is the true life story of Augusto and Micheala Odone (portrayed by Nick Nolte and Susan Saradon) who are suddenly faced with the challenge of their child, Lorenzo, being stricken with Adrenoleulzodystrophy (ALD). The film chronicles the affects of the disease and their desperate search for a cure. ALD is an extremely diabilatating neurodegenerative disease that destroys the lipids that form the myelin sheaths of axons in the brain. This reduces the connectivity of the neurons of the brain. It is X-linked recessive, and is fatal in many cases. It mostly affects males, but has been shown to manifest in females. ALD is caused by a mutation in ABCD1, a gene located on the X-chromosome. The disease can cause blindness, paralysis, sexual dysfunction, and dementia.
The film begins with Lorenzo as a normal, active 5 year old boy. He suddenly begins to demonstrate neurological problems such as erratic behavior, loss of hearing, and seizures. He is eventually diagnosed with ALD and given a life expectancy of 2 years. Lorenzo's condition rapidly deteriorates, leading to him completely losing his sight, hearing, and his ability to speak.
Despite his dire prognosis, the Odones fiercely search for a cure, culling through endless amounts of scientific research. They eventually find a therapy that involves a mixture of oils isolated from rapeseed oil and olive oil that contain 2 specific long chain fatty acids. They contact over 100 firms to attempt to find a company who can synthesize this oil. They find a British chemist who is willing to perform the complicated distillation of the oil, which is later to be found to be erucic acid. Their discovery retards the progression of Lorenzo's ALD and even helps him regain his hearing and some cognitive faculties. Despite its positive effects, erucic acid, later named Lorenzo's Oil, is not able to rebuild Lorenzo's deteriorated myelin sheaths. The film ends with a montage of real-life ALD suvivors who have been treated with Lorenzo's Oil. Lorenzo's Oil is still used today, in conjunction with other methods (stem cell research, gene therapy), as a treatment option for ALD.
Although Lorenzo's Oil was a commercial failure at the time of its release in 1992, it was critically acclaimed. The film garnered 2 Academy Award nominations one for Best Supporting Actress (Susan Sarandon) and another for Best Original Screenplay.
