Neonatal Adrenoleukodystrophy

I decided to post about a very rare genetic disorder known as neonatal adrenoleukodystrophy. Most people have never heard of this rare disorder. This is genetic disease that I am very familiar with because my cousin was diagnosed with neonatal adrenoleukodystrophy at the age of 6 months and sadly died at the age of three. By all appearances Andy was a normal newborn but it wasn’t long before my aunt and uncle noticed that something was wrong. Initially the pediatricians told my aunt and uncle that everything was fine and not to worry. Andy did not respond to visual cues or sound. Very soon after birth it was determined that Andy was deaf and blind. He was missing all of the milestones children should hit by the age of 6 months. Andy could barely hold his head up and could not sit up or role over on his own. It was a mystery to my family until he went to a specialist and it was determined that he had a very rare condition called neonatal adrenoleukodystrophy. This genetic disorder affects about 1 in every 50,000 births. This disorder is characterized by the breakdown or loss of the myelin sheath surrounding the nerve cells in the brain which causes dysfunction of the adrenal glands. In class we learned that the myelin sheath is responsible for the transmission of the electrical impulses along the axon. The breakdown of the myelin sheath affects one’s ability to transmit information and this explains why my cousin was unable to see, hear, roll over or even sit up.  Unfortunately, this particular form of leukodystrophy is fatal and there is currently no cure. For this reason my family has been very involved with promoting awareness and supporting fund raisers. Because this disorder affects the nerves and adrenal glands this is a disease that will get progressively worse. This specific form of leukodystrophy is caused by a mutation in the PEX5 gene. For an individual to have this disorder they must have two copies of the mutated PEX5 gene. Both my aunt and uncle were carriers of this mutated PEX5 gene. My aunt and Uncle gave birth to another son several years later and were very lucky not to have passed along this disorder to their second son. Because they were both carries of the recessive mutated gene PEX5 they have a 50 % chance of having a child with the disorder. I found the topic of this blog post interesting not only because of my personal connection but also because of how this disorder relates to multiple topics leaned about and discussed throughout this class. During this class we discussed at length the transmission of recessive alleles and the pedigree analysis and genetic counseling used.  We also discussed the function of the myelin sheath on the neurons axon and what this is responsible for. Currently there is research being conducted using stem cell transplantation using umbilical cord cells and bone marrow cell. Unfortunately these treatments can only slow this degenerative process of the myelin sheath deterioration. The most effective way to prevent this disorder is understanding genetic testing for the recessive alleles.

Work Cited:

http://ulf.org/

http://www.orpha.net/consor4.01/www/cgi-bin/OC_Exp.php?lng=EN&Expert=44

http://www.nytimes.com/health/guides/disease/adrenoleukodystrophy/overview.html

Say NO to GMOs

GMO, which stands for genetically modified organisms, are being found in food we eat more so now than in the past. What exactly is GMOs? GMOs are genetically engineered organisms that have been changed and manipulated in laboratories. The reason why GMOs are so harmful to the human body and more people are starting to become GMO free is because these labs are directly spraying chemicals onto the food while it is being processed. GMOs have been added into food without being identified. What this means is, food that we have been eating has been processed with these chemicals and we have been ingesting them every time we eat. Just because a package of food says “organic” does not mean that it is GMO free, either. If something is organic, either no chemicals were used, or the chemicals that were used were “natural.” There is a website called the “non-GMO project” that gives complete lists of GMO free, and verified, foods and different ways to avoid GMOs. This website gives good insight to those who are wanting to learn more about GMOs and what they really are.

              I have recently started to eat GMO free foods. In all honesty, I feel so much better and I do not get as tired as easily as I did before. There are many documentaries on Netflix about food and GMOs which are extremely interesting. One show that I have watched is called, “Food Inc.,” and they talk heavily about food in grocery stores. Most of the foods, especially tomatoes, when they are sold out of season, they are genetically engineered, all the way down to the color. Knowing this about the foods that are being sold, and being allowed to be sold, is a little frightening to me. According to the non-GMO project website, in The United States alone, over 80% of our food is processed with GMOs.

              Since science is always changing, and will continue to always change, all we can do, as consumers, is make sure we are putting the best foods into our bodies. One way I am starting to do this is by composting my own food waste. In the city that I live in, we actually have compost bins for everyone to use. This is helping to grow organic foods, with no chemicals. The gardens where these foods are being grown are available for anyone to come and pick from the harvest. I think this is a very important step in the right direction. The next important step is to continue to spread the word about the compost bins, and teaching kids and families about eating organically. According to another article, listed below, Holland has been testing GMOs on mice. When they studied these mice, they noticed drastic behavior changes between the mice who have been given the GMOs and the mice who have not. Even though this has only been tested on mice, I hope more tests are done to see if GMOs have this type of effect on students and people with behavior and social issues.

Also attached is a video on GMOs from Bill Nye.

Non-GMO Project

Mice on GMOs Article

Lack of Sleep May Lead to Alzheimer's Disease

Not getting enough sleep may be a leading cause of Alzheimer’s disease. Some new studies have shown that a lack of quality sleep may lead to a buildup of a protein that is shown to cause Alzheimer’s.  “Scientists at the University of California, Berkeley, have found compelling evidence that poor sleep -- particularly a deficit of the deep, restorative slumber -- is a channel through which the beta-amyloid protein, believed to trigger Alzheimer's disease, attacks the brain's long-term memory” (University of California – Berkeley, 2015).  They believe that the lack of restorative sleep allows the beta-amyloid protein to build up, causing a weakening of the memory.

Beta-amyloid starts out as a single molecule but these molecules tend to bunch up together.
As they bunch up they form a plaque that can be seen in Alzheimer’s patients. A study at Stanford University School of Medicine showed that “for the first time that in this clustered form, beta-amyloid can bind strongly to a receptor on nerve cells, setting in motion an intercellular process that erodes their synapses with other nerve cells” (Stanford Medicine, 2013). We learned in class that the synapses are how the cells send and receive electric charges in the nervous system. If these synapses get blocked the cells cannot function properly and can lead to the cells death. As more and more of the cells die this leads to severe memory loss which is the hallmark for Alzheimer’s.

It has been shown that there is a buildup of beta-amyloid in people who had Alzheimer’s and those who had a sleeping disorder. “ Moreover, a 2013 University of Rochester study found that the brain cells of mice would shrink during non-rapid-eye-movement (non-REM) sleep to make space for cerebrospinal fluids to wash out toxic metabolites such as beta-amyloid” (University of California – Berkeley, 2015).  This helps to show that sleep can help to get rid of some of the buildup of this toxic protein. They are still trying to figure out whether a buildup of the protein causes poor sleep or if poor sleep causes a buildup. They are still doing research on which is the leading factor.

To see how sleep affects the memory and the buildup of the beta-amyloid in people researchers at Berkley did a study where they had people memorize a list of words and then go to sleep to see how much they remembered the next day. Using brain imaging and other diagnostic tools they were able to show that those who got a good night sleep had a lower level of beta-amyloid and were able to remember more the next day than those who had the poorest quality of sleep.  This shows that the quality of sleep we get can affect the amount of beta-amyloid.

Heavy deposits of the toxic protein, beta-amyloid, shown in red in the brain on the right, are linked to poor sleep and may be paving the way for Alzheimer’s disease. A brain benefiting from deep sleep brain waves and an absence of beta-amyloid is shown on the left.

Credit: Photo courtesy of Bryce Mander and Matthew Walker

If sleep is the leading cause of Alzheimer’s this may be considered a good thing. Getting more sleep is treatable. There are many ways that people can increase their amounts of sleep including exercise, therapy, and maybe even electrical stimulation that amplify the brain waves during sleep. Just getting enough sleep could maybe decrease your likelihood of getting Alzheimer’s or decrease the effects of the disease. More studies are going to be done to solidify the link between sleep and Alzheimer’s. 

• Scientists reveal how beta-amyloid may cause Alzheimer's 
• Poor sleep linked to toxic buildup of Alzheimer's protein, memory loss

Works Cited:
University of California - Berkeley. "Poor sleep linked to toxic buildup of Alzheimer's protein, memory loss." ScienceDaily. ScienceDaily, 1 June 2015. <www.sciencedaily.com/releases/2015/06/150601122442.htm>.

Stanford Medicine. "Scientists Reveal How Beta-amyloid May Cause Alzheimer's." News Center. Stanford Medicine, n.d. Web. 10 June 2015. <https://med.stanford.edu/news/all-news/2013/09/scientists-reveal-how-beta-amyloid-may-cause-alzheimers.html>.

Meal frequency and body mass index

Relationship between meal frequency and the body mass index in adolescents

Obesity has become one of the major lifestyle challenges facing human beings today. Obesity in human beings is associated with various problems including lifestyle diseases such as blood pressure, heart disease, diabetes, and poor quality of life. Childhood and adolescent obesity has been on increase at higher rates than in adults and this has raised serious public health concerns. Human nutrition has been shown to be one of the major causes of obesity in most parts of the world. Identifying ways of preventing obesity has becomes a key public health goal especially in developed countries where the problem of obesity is most severe. Therefore, research has focused on how human nutrition can be altered in order to lower obesity. In particular, the metabolism of the human body and the frequency of meals has attracted significant attraction in the recent past. Understanding the relationship if any between meal patterns and weight changes can be useful in preventing obesity (Franko et al., 2008).

In one study, Frank et al. (2008) investigated whether meal frequency was related to body mass index among adolescent girls aged 9-19 years. At baseline, there were 1,209 black and 1,166 white girls enrolled in a National Heart, Lung and Blood Institute Growth and Health Study. Data on three-day food diaries as well as height and weight of the girls was taken at annual in-person visits. Meal frequency was determined from a 3-day food records of participants. The study findings showed that on average, the girls who ate more than three meals per day had lower body mass indices than those who consumed 3 meals only. The conclusion drawn from this study was that meal frequency had a direct relationship to BMI and should, therefore, be explored when developing programs for obesity prevention. People who consume a few meals are at a higher risk of obesity compared to those who consume higher number of meals. Higher meal frequency was postulated to have metabolic advantages that help to lower BMI and obesity (Frank et al., 2008)

The findings of Frank et al. (2008) were corroborated in a later study conducted in 2013 at the University of Eastern Finland. In this study evaluating the correlation between meal frequency and adolescent obesity, it was showed that five regular meals daily significantly reduced the risk of obesity in adolescents. The population-based study involving over 4,000 participants was conducted by collecting data from participants from birth up to the age 16. The aim of the study was to identify the obesity risk factors as well as the association with meal frequency and obesity. The results indicated that people who fed on a regular pattern of five meals had reduced risk of being overweight and obesity for both sexes. The study also found that skipping breakfast had an impact of increased risk of obesity and higher BMI (University of Eastern Finland, 2013).

Obesity is a condition of high accumulation of fat in the body and may result in life-threatening conditions such as heart disease and obesity. It is evident that higher frequency of meals could reduce the risk of obesity among adolescents. This may be due to the metabolic benefits associated with regular eating habits. Therefore, obesity prevention programs should focus on educating patients and the public of the need for regular and higher frequency meals as well as the disadvantages of skipping meals as a way of reducing weight.

Work cited:

Franko, D. L., Striegel-Moore, R. H. Thompson, D., Affenito, S. G., Schreiber,  G B., Daniels, S.   R. and Crawford, P. B. (2008). The relationship between meal frequency and body mass     index in black and white adolescent girls: more is less. International Journal of Obesity        32, 23–29. Retrieved May 30, 2015 from:  

http://www.nature.com/ijo/journal/v32/n1/full/0803654a.html

University of Eastern Finland. (2013). Five regular meals a day reduce obesity risk among   adolescents. Science Daily. Retrieved May 30, 2015 from:  http://www.sciencedaily.com/releases/2013/10/131003095450.htm

Did ‘Lucy’ Have Neighbors?

It is currently undoubted that human race traces back to the humble eastern Africa with most of the fossils and artifacts that depicts the existence and civilization of an early man species extracted over the years. Popular sites include The Olduvai Gorge in Kenya, parts of eastern Uganda and parts of northern Ethiopia. Among the most famous species of hominids are the kenyathropus platyops, homoerectus, and homopithecus (Reed & Kaye 2013). They are hominids species because they relate to humans than to chimps in their body structure, art, tools, and culture as they roamed the rangelands about 3 million years ago. Acknowledgements to the paleontologists and geologist who have discovered these marvelous creatures in an attempt to decipher our ancestors and more so who answer the once labelled 64-million-dollar question, which taxa gave rise to our taxa Homo? We, ’humans’ belong to the species Homo sapiens sapiens.

You probably know ‘Lucy’ or have about her marvelousness’ not only in the way she was quickly discovered but also for the distinct formation of body structured as depicted by her skeleton (Meldrum & Charles 2004). In 1973, at a camp site in Afar Triangle of Ethiopia paleontologists, archeologist, anthropologist and geologist celebrated to making one of the greatest discovery of all time and from a tape recorder in the camp, ‘the Beatles’ song ‘Lucy in the sky with diamonds’ played loudly and repeatedly hence the name ‘Lucy’. Donald Johansson and Tom Gray who were a group of archeologist and geologist had discovered the end of shinbone. However sliced but luckily, the lower part-end of femur was near it. When fitted into each other, they formed the angle of a knee joint undoubtedly indicating that it was an upright walking hominid. Within the second field era in autumn, the crew operated on the location where they discovered hundreds of bone fragments (Reed & Kaye 2013). Amazingly, these pieces were with no duplication and formed 40% of a hominid skeleton that and later assessed as a female based on the pelvic and sacrum bones. The terrific collection and reconstruction confirmed the original speculation to a hominid speciesAustralopithecus aferensis Lucy that resembled modern humans. Lucy then became a household name in the 1970s.

Currently, it is evident that Lucy was not alone. She presumably had cousins more or less neighbors. Recent fossilized teeth and jaws discovered in northern Ethiopia about 35 kilometers from Lucy’s Hadar (Reed & Kaye, 2013). The bones are from diverse kinds denoted to as the Australopithecus deyiremeda that dates 3.5 to 3.3 million years compared to Lucy that dates 3 to 3.7 million years. The name deyimerada in Afur language means relative or close in addition given the proximity of Hadar and dating these two species presumably co-existed in the same period and geographical region (Meldrum & Charles, 2004). However, the latter has notably beefier jaws and much smaller teeth than any hominids ever learned. Many of these bones demonstrate a different compelling match to the flat-faced kenyathropus platyops and even to Lucy.

This therefore denotes that the latter is a different species all the same. Researchers speculate that the latter might have lived among trees or even fed on different food owing to the shape of the teeth differentiates him from Lucy. However, questions on their co-existence remain a mystery that is unfolded until now. Imagine living in a world with another species almost alike physically and culturally. Did they battle for territory, food and shelter or did they bath together in the Awash River exchanging pleasantries?

Works Cited

Kimbel, William H, Yoel Rak, and Donald C. Johanson. The Skull of Australopithecus Afarensis.

New York: Oxford University Press, 2004. Print.

Meldrum, D J, and Charles E. Hilton. From Biped to Strider: The Emergence of Modern Human

Walking, Running, and Resource Transport. New York: Kluwer Academic/Plenum, 2004. Print

Reed, Kaye E, John G. Fleagle, and Richard E. Leakey. The Paleobiology of Australopithecus:

Contributions from the Fourth Stony Brook Human Evolution Symposium and Workshop, Diversity in Australopithecus: Tracking the First Bipeds, September 25-28, 2007. Dordrecht: Springer, 2013. Internet resource.

Does the size of the brain matter?

Does the size of the brain matter?

The brain is the most incredibly mysterious organ in the human body. Researchers have linked its size to intelligence and cognitive skills. Others have also linked it to the ability to exude morality and sacred values. The question is: does having a big brain necessarily mean one is, has a high IQ? Since men have larger brains than women, does that make them smarter? When SAT scores of a 100000 17 and 18-year old boys were compared to the scores of their female counterparts, the boys were found to have 3.63 IQ points higher than the girls. This could be interpreted to mean that bigger brains make one brainier. Nevertheless, making that statement a fact is still work in progress.

While increases in brain size may indicate a better capacity to intelligent behavior, only a particular section of the brain matters. This is why some animals have heightened senses of smell, sight or abilities to have greater precision in particular movements. One would ask himself then if brain size matters, why do insects with the brain the size of a pin-head have equal or higher intelligence than other bigger animals? The average human being has a brain weight ranging between 1.25kg and 1.45kg with 85 billion nerve cells while a whale can have a brain weighing 9kg with more than 200 billion nerve cells. This does not make a whale brighter than the human being. In fact, the intelligence of people compared to that of whales is outstanding. Bigger animals may have bigger brains only because they need higher control for their big bodies not because they are more intelligent.

Other studies suggest that indeed the size of the brain matters. Magnetic resonance imaging has been used to show the comparison between the sizes of human brains to their intelligence. A few years back, the outcome of twenty-six imaging studies established that there was indeed a relationship between the intelligence level and brain size. It showed that the correlation was steadily within 0.3 to 0.4 ranges. The genome-wide association study, which included 20000 human subjects, showed that the difference in HMGA2 gene that makes cell growth possible was correlated with the intracranial volume and enhanced IQ. Higher morals reasoning skills have also been linked to a bigger brain. Studies suggest that a person with a bigger brain has more capacity to learn new things and also establish more cognitive behavior. Their increased gray matter in the brain enables them to make more acceptable moral decisions and social behavior. This is the reason they are more likely to choose to do the right thing other than the wrong thing.

Finally, it cannot be said conclusively whether brain size affects the reasoning capacity of human beings. If that were true, Albert Einstein, a scientist would have encountered immense difficulty thinking and establishing theories and facts due to his average-sized brain. His example proves that indeed the size of the brain does not determine intelligence. There may be more to brainpower than simply having a massive brain which includes the higher degrees of gray matter in the brain. Having smaller brains, therefore, does not necessarily throw one into the pit of poor academic performance and low cognitive abilities. Truth be told, some of the most outstanding minds had smaller brains than the average man.

http://www.sciencedaily.com/releases/2015/06/150603181807.htm

http://www.sciencedaily.com/releases/2009/11/091117124009.htm

https://neuroscience.stanford.edu/news/ask-neuroscientist-does-bigger-brain-make-you-smarter

  http://science.howstuffworks.com/life/inside-the-mind/human-brain/brain-size2.htm

The Risk of Auto- Reactive Immune cells in Adults

There has been a long held belief that most of the self-reactive cells in the immune system are removed in the early stages of life. These cells are mostly contained in the thymus. However, new studies contradict the belief. These studies have established that the self-reactive cells can remain in circulation in the human body up to adulthood. The new findings contradict the belief that has been held for more than 25 years. Many specialized cell coordinates in the complex immune system of vertebrates. The coordination is aimed at wiping out developing tumors and foreign invaders. T-cells are some of the cells involved in this critical function. The cells mature in the thymus from which they derive their name.

There are two major varieties of T cells. One of these classes is the killer T cells or cytotoxic T cells, which plays a significant role in attacking and destroying cells containing pathogens such as viruses. The killer T cells also attack most cells that represent any sign of becoming or being cancerous. The proliferation of T cells during the early stages of development cause them to undergo a process of frequent scrambling of the DNA. The scrambling occurs in major parts of their genome resulting in DNA rearrangement. Therefore, a great variance in the types of unfamiliar tissues and pathogens that individual T cells can successfully identify and separate from the community of familiar and healthy tissues. The huge amounts of cell replication leave a high diversity of T cells as far as identification of unfamiliar and pathogen infused cells is concerned. Therefore, a vast array of antigens, which constitute the biochemical component of cancerous cells and pathogens, can be effectively identified for immune detection. Therefore, it is very difficult for cancerous cells and pathogens to invade the human tissues.

As much as the process of random mutation can yield immune cells that can be stimulated by different characteristics of antigens of tumors and pathogens, the process can also produce immune cells that can be activated by countless antigens present in the healthy tissues of a human body. The current theory indicates that this process occurs only among few people late in life creating autoimmune, which indicates that there may be a definite pattern and explanation as to the limited number of its occurrence. Mouse studies have provided much of the theories behind the reason for autoimmune not been experienced by everyone. Scientific research indicated that the frequency of recognition of self-antigens by killer T cells is almost the same as the frequency of recognition of foreign antigens. This indicates that even though the thymus begins shrinking during adolescence and withers into useless fat, there is still a great amount of the cells developed in the thymus that circulate in the body.

Further investigations comparing male and female T cell frequency that can recognize Y-chromosomes indicates that there was about a third as much prevalence of these cells in men as compared to women. The Y chromosome should be self in men and foreign in women. Therefore, T cells detecting Y-chromosomes in women should be a normal scenario. However, the presence of the cells in male indicates that the killer T cells targeting the antigen in men do not disappear completely as a third of them survive.

Work Cited

Stanford University Medical Center. “Adults harbor lots of risky autoreactive immune cells.” ScienceDaily. Science Daily. Web. 19 May 2015. Retrieved from  HYPERLINK "http://www.sciencedaily.com/releases/2015/05/150519132625.htm" http://www.sciencedaily.com/releases/2015/05/150519132625.htm