Brianna+Lepore

Week Three: Wrinkles by age 15 Early this week in class we watched a Ted Talk where a boy named Sam Berns, a junior at Foxford High School in MA, appeared and was interviewed. I enjoyed the story and it particularly interested me because I had seen a few photos of a little girl who shared Sam's disease recently on a few social media websites. So this morning I looked up the ted talk again and found that unfortunately, 3 months after the talk, Sam passed away from his rare disease, Progeria. **Progeria Syndrome** is a genetic disorder that effects approximately one in a million children. It is categorized by rapid aging that begins in early childhood. At birth, the affected children will appear normal, but they will grow slowly and not gain as much weight as they should. They will have hair loss, aged-looking skin, loss of fat, joint abnormalities, and are known for thin facial features and protruding ears.Yet the condition will have no effect on basic motor skills, such as standing and walking, or their intellect. The disease in devastatingly deadly, and will kill the children usually by age 13.

Progeria is caused by a single mutation in the gene called LMNA. Normally the LMNA gene would produce the Lamin A and Lamin C protein, which determines the shape of the nucleus within cells and is essential as a support component of the nuclear envelope. It is now believed that the defective Lamin A makes the nucleus unstable, leading to a cascade of events that causes premature aging and makes cell more likely to die earlier than they should.
 * CAUSES **



Progeria is an autosomal dominant condition, thus one copy of the altered gene will cause the disorder. Since the condition come from a new mutation in the gene usually it will occur in people who have no history of the disorder in their family.
 * Inheritance **

Currently a genetic test for Hutchinson-Gilford progeria syndrome (the most deadly form of the diseases), is available. In prior years, doctors would give their diagnosis only using the physical changes, such an inability to gain weight an skin changes, but these were not seen until after one or two years of the child's life. They then began to examine X-rays, but misdiagnosis was still an often event. Yet once they learned that the disorder was caused by a change in the DNA, scientists realized they could use genetic sequencing to diagnosis.
 * Test **

Unfortunitly, the specifics of how Progeria works is still unclear, yet we do know a few things.
 * What this has to do with aging **
 * Every human makes progerin, which is the diseased form of Lamin A. In the children with Progeria, all of their Lamin A turns into progerin and will build up over a lifetime.
 * Progerin is also linked with telomere dysfunction. Earlier this year we learned that telomeres were nonsense ends of DNA used to protect the DNA during replication. With each replication the chromosomes gets a little bit smedia type="youtube" key="36m1o-tM05g" width="532" height="323" align="right"horter and the telomere prevent slicing into the essential base paring. Normally, the essential bases parenting would not be cut into until a person is very old- causing what were call "dying of old age". Yet without the protection, the children with progeria, would begin toloose their essential coding at an early age.
 * What may be the greatest cause of deaths though, is atherosclerosis (also known as heart disease).
 * Altherosclerosis is the thickening and hardening of the arteries which would normal occur with age. It involves fatty substance in the atery's inner lining, a build up known as plaque. The plaque can grow to the point where it significantly reduces the flow of blood or it will become fragile and repute, forming clots that block blood flow. If the blockage occurs to an artery that is feeding blood to the heart, it causes a heart attack. If it is an artery that leads to the brain, it causes a stroke. For unknown reasons children with Progeria are highly susceptible to this.

Sadly, to date, there is no cure. Groups such as the Progeria Reasearch Foundation are working towards one. Currently, they are investigating Farnesyltransferase inhibitors (FTIs), which were originally developed for cancer. The FTIS are capable of reversing dramatic nuclear structure abnormalities and are now being tested in labs to see if it will treat Progeria patients. Fingers crossed!!
 * A cure **

Week Two: Take A Breather For the past week our class has been focused on the subject of sustainability, how various biological systems are able to remain diverse and productive in order to survive. We talked about the age old “survival of the fittest” and how organisms with the most favorable genes for their environment will do the best and pass on their traits (like the macro-invertebrates susceptible to pollution we will find, fingers crossed!) This got me thinking though, about how a big part of survival isn’t just the genetics. Its what one does with their genetics. How individuals take what they were lucky or unlucky to inherit and push it to limit. Humans of all strengths push themselves mentally and physically to do things their genes wouldn't normally encode. Its amazing, what people across the world are doing. Crazy things, not necessary for survival, but to simply become the best and defy what nature intended. The man I stumbled upon was **David Blaine.** He was a magician and stuntmen who for years had successfully performed numerous life threatening stunts, from freezing himself in a block of ice for 3 minutes to living in a glass box for 44 days with nothing but water. Yet none would compare to his greatest success of all, holding his breath for 17 minutes and 4 seconds. His fascination began as a child. David always admired Houdini who held the record for holding his breath for 3 minutes and 40 seconds. After hearing of a boy who while trapped under ice with no air for 45 minutes, he became determined to set a record himself. He first met with a neuroscientist, who filled David in with the risks. As a person deprives their body of oxygen its only a matter of time before CO2 levels build up, causes a reflect to make muscle spasms in the diaphragm and the muscles between ones rips. Usually this leads to people gulping for air. Yet when humans are submerged in cold water their bodies instinctively prepare to conserve O2, similar to how whales and dolphins when they prepare to dive. The heart rate drops, blood pressure goes up and circulation is redistributed. This will help with the O2 conservation, but doesn’t do much for muscle spasms. Suppressing the pain impulse for too lung can lead to the brain shutting down and the person passing out. Yet, David was determined anyway.

**Goal:** Beat record of 16mins 32 seconds

For 4 months prior to the event David trained intensely.
 * Training: **
 * 1) Every morning he would hold his breath for 44 out of 52 minutes. He would purge (an intense blowing out to release all CO2) for a minute, then hold his breath for 5 and half minutes. This would be repeating 8 times in a row.
 * 2) Glossopharyngeal Insufflation: Would inhale until his lungs were filled to their capacity and then forced additional air into the lungs by swallowing hard. This allowed him to cram about another quart’s worth of air into already full lungs.
 * 3) Fasted before the event in order to allow more room for the lungs to expand without bumping in a full stomach.
 * 4) Slept in a hypotoxic tent- resembled the air pressure of 15,000 foot altitude, similar to being on the base camp of Everest, which built up the red blood cell count in your body and lets you hold 02 better.
 * 5) Practiced not moving at all


 * Discomforts At the Event: **
 * [[image:udapbio/index.jpg align="right"]]David was submerged in a tank of water
 * He was forced to be face up for everyone to see
 * Had to wear a suit, but it was very buoyant so his feet were strapped in to prevent him going up, causing him to have to use his legs to hold his feet in the straps.
 * The extra activity made him nervous, increasing his heart rate.
 * Along with a heart beat monitor was beating loudly next to him further increasing his nerves (when practicing his heart would go from 38 beats/minutes to 12 beats/minutes but during the real thing it stayed at 120 beats/minute and he was unable to decrease it)


 * The 17 minutes **
 * 1) Began with him inhaling pure O2 which flushed out all the CO2 in his body
 * 2) Spent first 5 minutes desperately trying to lower his heart rate
 * 3) 10 minutes: started to get tingling sensation in fingers and toes because of blood shunting: blood flowing away from extremities to provide blood to vital organs
 * 4) 11 minutes: throbbing in legs and limbs
 * 5) 12 minutes: arm going numb
 * 6) 13 minutes: pains in the chest
 * 7) 14 minutes: awful contractions
 * 8) 15 minutes: major O2 deprivation to heart. His heart rate began to quickly change from 120 to 50 to 40 to 150 and kept skipping beat.
 * 9) 16 minutes: believing he was going to have a heart attack he stopped holding himself secure at the bottom of the tank and allowed himself to float upwards, waiting for his heart to stop
 * 10) 16 minutes 32 seconds: hears intense screaming and with that is able to push to 17 minutes!!

media type="custom" key="26108770" Week One: Is There A Cure? //The opposite of depression is not happiness but vitality-Andrew Solomon// Depression is defined by a mood disorder that causes a persistent feeling of sadness and loss of interest, but to ask anyone with it, you'd find it's much more than that. Its a terrifying mental disorder that can lead to an intense disinterest in even the simplest aspects of life, such as eating, bathing, or even leaving the house. It is often accompanied by an anxiety based off the traumatic event that triggered the depression or just an consistent unknown fear. Often the word lost in field of other emotions, such as grief, but grief is an emotion that fades slowly over time, depression if untreated may never pass.

Depression is not the result of the same malfunction in the brain for every individual, its symptoms are attributed to a multitude of hormonal, specifically neural aspects. For a long time, the disorder was said to be a result of a "chemical imbalance in the brain", but recently it has been more connected to nerve cells growth and functions of circuits instead. Due to an increase in the technology of brain imaging, scientists have been able to map the brain by measuring the distribution and density of neurotransmitters in certain areas. They've located a few areas that are affected by depression.
 * __ Understanding the Causes __**

__Amygalda:__ associated with emotions such as anger, pleasure, fear, and sexual arousal. The amygdala is activated when a person remembers emotionally charged memories, such as a frightening situation. It is known to be higher in people with depression. __Thalamus:__ Receives sensory info and relays it to the appropriate part of the cerebral cortex Hippocampus: Part of the limpic system that controls memory and recollection. On going exposure to stress hormones impairs growth of the nerve cells here. One study showed that when comparing 24 woman with depression and 24 without, on the average the woman with had 9% to 13% small hippocampues than those without.

Big Picture: To begin with, most people thought that depression was mainly caused by a of lacking neurotransmitters (the "chemical imbalance"). Yet in patients given antidepressants, which boost the concentration of neurotransmitters in the brain, it takes typically 4 or more weeks to see results. Why so long? The answer proposed is that treatment needs to target nerve growth and connections, not just neurotransmitters. Animal research had led credence to this. A 2003 study in Science found that if neruogenesis (the production of neurons) in mice is blocked, all the benefits of antidepressants disappear. For four weeks mice were treated with antidepressants, and they appeared to have less depressed behaviors, such as now being able to retrieve food from bright places, and less anxious. The mice had 60% more dividing cells in their hippocampus. Yet when the mices' hippocampus were dosed with x-rays, which inhibited the growth of the new neurons, the drug treatment failed to reduce any of the anxiety. Yet the fact that neurotransmitters are not the only aspect, does not diminish their importance and role in depression. Typically brain cell produce levels of neurotransmitters that keep body functioning properly and mood stable. But for some people, the systems that accomplish this malfunction.
 * Receptors are oversensitive or insensitive to a specific neurotransmitter, causing a response to be excessive or inadequate
 * A message is weakened if the original cell pumps too much or too little
 * The neuron releasing the transmitter may take back up the transmitter before it has a chance to bind to another neuron.

Treatment for depression is often a combination of psychotherapy and medication. As of now, the most popular form of medication is the antidepressant, which as said above, increases neurotransmitter concentration. Two of the most commonly prescribed: __ Alternative Solutions __ Although depression is often treated by medicine, a lot of people find alternative ways to help the symptoms. Andrew Solomon, who led the ted talk I watched, noted that unlike other health issues, depression is categorized by feeling. The example he uses is comparing it to techniques of brain cancer patients. If a man with brain cancer says standing on his head for 20 mins each morning makes him feel better, that may be true but he will still most likely die from his cancer. Yet if a man with depression says it makes him feel better, it is treating the illness.
 * __ Solutions __**
 * SSRIs antidepressants: work by slowing or blocking the sending neuron from taking back the released serotonin. In that way, more of this chemical is available in the synapse. The more of this neurotransmitter available, the more likely the message is received. Serotonin helps regulate sleep, appetite, mood and inhibits pain. People with depression often have reduced serotonin transmission and low of levels of serotonin byproduct have been linked to a higher risk for suicide.
 * MAOIs. The antidepressants known as MAO inhibitors affect neurotransmitters in a very different way. Monoamine oxidase (MAO) is a natural enzyme that breaks down neurotransmitters. MAIO disrupts the enzyme MAO and therefore increases the neurotransmitters in the synapse, making more messengers available to the receiving neuron.

I've always been interested in mental disorders, and I believe the heightened awareness today compared to 10 or 20 years ago is amazing. Yet people always stress that depression can't be controlled, its not the fault of the individual, but they don't often talk about the specifics, and maybe that's just because its still unclear how everything is connected. In class we spent a good amount of time discussing all year how complex systems work together. How one or two small changes can have a huge effect, particularly if the changes can be inherited genetically, like certain aspects of depression. Within our recent plant experiment, we tried to show how this can effect a larger population, by natural selection. The plants with the superior genes for their environment are able to survive and hopefully then reproduce. Since plants can reproduce asexual their offspring should share the same characteristics. It made me wonder more about natural selection humans. Often genetic disorders in people are passed on because genetic variation, mutation, recessive genes, etc. prevent the expression of the disorder. Along with this, thank goodness, depression only leads to suicidal results in some cases, and thus the gene can still be passed on and appear throughout family lines. media type="custom" key="26024718" align="left"
 * __ Connection to Class __**