Disorders Share Risk Gene Pathway: Bipolar Disorder, Depression, Schizophrenia

Bipolar Disorder is a brain disorder that produces alterations in mood, energy, activity levels, regular tasks in life. Even though, it is more prevalent in teenagers and adults, children as young as 6 can be affected, making this an extremely important disorder to understand and treat. Currently, there are about 5.7 million adults in suffering bipolar disorder just in the U.S. A recent study by Psychiatric Genomic Consortium (PGC), funded by NIMH’s Genomics Research Branch, discovered that several mental disorders, such as bipolar disorder, depression, and schizophrenia, all share genetic risk affecting pathways associated for immune system and neuronal communication. Reducing the potential pathways for these disorder into a few shared pathways offers hints to shared mechanisms, precise diagnosis, and more efficient and successful treatments. The researchers figured the share pathways through finding that disorders that share a characteristic age-of-onset also share the similar risk gene paths. The study also narrows the pathways shared to the process of histone methylation, a mechanism responsible for gene expression and regulation according to the environment present.

            In a research study conducted by Dr. Weisenbach and team, there showed a strong correlation between bipolar disorder and aging on the quality of life lead by the patient. The study found that emotion processing, processing speed, and functioning skills in all BPD patients are negatively impacted by the disease and age. Aging and the disease also affect the capacity to execute physical tasks. The quality of life is extremely deteriorating as age increase. However, it is proved that the patients will form resilience with the disorder after experiencing it long term. Through figuring out the share pathways of bipolar disorder along with depression and schizophrenia, the researchers have opened up a new door to the potential treatment for all three disorders, which are all very common among society. Many suffering bipolar disorder also suffer depression and other brain disorders. These potential treatments can improve the subjective quality of life of the patient suffering and also form resilience to the disorder.

Weisenbach, S. L., & Marshall, D., & Weldon, A. L., & Ryan, K. A., & Vederman, A. C., & Kamali, M., & Zubieta, J. (2014). The double burden of age and disease on cognition and quality of life in bipolar disorder. International Journal of Geriatric Psychiatry, 29, 952-961. doi: 10.1002/gps.4084

Asher, J. (2015, January 29). Disorders Share Risk Gene Pathways for Immune, Epigenetic Regulation. National Institute of Mental Health. Retrieved April 28, 2015, from http://www.nimh.nih.gov/news/science-news/2015/disorders-share-risk-gene-pathways-for-immune-epigenetic-regulation.shtml

Osseointegration

Aadeel Akhtar visited Loyola University to give a talk about his research called “Design and Performance of an Open-Source, Affordable, Myoelectric Prosthetic Hand”. He presented the Tact hand, a prosthetic hand that is created using a 3D printer, making it affordable for individuals living in low-income countries. Many current prosthetics that are affordable only allow an individual to perform the simple function of opening and closing the prosthetic hands. Those prosthetics that have higher functions such as moving individual fingers or have a stronger grip are more expensive, costing from $25,000 to $100,000. Therefore, many people in developing countries are only able to get the basic open-close prosthetic.

Akhtar and his team were able to use a 3D printer to create a prosthetic hand which had higher functions than just opening and closing, and only costs $250. This hand is also lighter than many other prosthesis, and allows for the thumb to be manipulated in various positions. The way the prosthetic functions is by using electromyography (EMG) electrodes, which detect the movement of the muscles in the arm. Specific muscle movements will determine whether the hand will open, close, or simply move a finger much like a normal hand does.

Although Akhtar’s prosthetic hand is a great and affordable device, it is still missing one thing, sensory feedback. Being able to manipulate objects again is a huge step for individuals who have had a hand amputated. However, something that these individuals miss is the sensations they feel when they touch something. Their prosthetic hand does not let them feel the softness of a pillow, the smoothness of a marble, or the rough feeling of sandpaper. Although sensations are not necessary for performing daily functions, they do allow an individual to feel more normal and make them forget that they have a prosthetic in the first place. Well, Science Daily published an article in which scientists at Chalmers University of Technology were able to bring back sensation to amputees through the use of prosthetics. They used a technique called osseointegration in which there is a structural and functional connection between a bone and an implant.

In January of 2013, osseointegration was done for the first time, in which the patient’s prosthesis was directly connected to his bone, nerves, and muscles. This patient had his arm amputated over ten years ago and his previous prosthesis was controlled by electrodes placed over the skin. Although this gave him enough function to perform daily tasks, its functionality was limited and was quite uncomfortable. By having the artificial arm directly attach to his skeleton, the individual has better mechanical stability. His nerves and muscles work with the machine’s control systems through neuromuscular electrodes implanted under his skin. Scientists say that his technology has come a long way with having body and machine coming as one.

Through this new prosthetic, he has been able to conquer physically challenging jobs as a truck driver, performing tasks he was never able to do before. This prosthetic also allows for him to feel sensations. Since it is connected to his nerves, he is able to get information from the prosthetic to the brain. Scientists are saying that his is the first step towards a more natural artificial limb. If an amputee is able to feel sensations again, it will be as though they had never lost their limb, making them feel as normal as they were before the amputation.

The article later lists what advantages osseointegration and implanting electrodes in nerves and muscles has compared to other options. By having the osseointegration, an individual no longer has a physical limitation in their range of movement, because the limb does not have to be connected to the socket anymore. The bone also senses forces and vibrations which help in the role of sensory feedback. The prosthesis can be worn all of the time and there is no hassle of having to put it on and off. Some advantages of the implanted electrodes is that they allow for the ability of handling smaller, delicate items and more movements overall can occur. In other prosthesis, re-calibration is required daily when they put it on, but this one requires no re-calibration after the first fitting. Implanting the electrodes in the skin also means that environmental conditions such as temperature do not interfere with the control of the prosthetic. And finally, electrodes can be used to send signals to the brain that make an individual feel sensations coming from the prosthetic.

Science has come a long way in allowing people to live regular lives after injury. Now, amputees not only are able to perform normal functions with their prosthesis, but they can also start feeling sensations again. Unfortunately, the osseointegration procedure is expensive to perform to normalize that which was lost after losing a limb. However, hopefully scientists will soon discover a more affordable way of creating high tech prosthesis, such as Akhtar’s prosthetic hand.

Chalmers University of Technology. "Mind-controlled prosthetic arms that work in daily life are now a reality." Science Daily. ScienceDaily, 8 October 2014. <www.sciencedaily.com/releases/2014/10/141008153616.htm>

To Feel Again 

For years one of the biggest mysteries in neuroscience and health, hid in what is known as phantom limb pain. These pains relied on different nerves picking up cues from the environment. However, the question about the rewiring of the nerves came to the surface. In Akhart’s research, “Tact: Design and Performance of an Open-Source, Affordable, Myoelectric Prosthetic Hand,” him and his research team focused greatly on the best way to design prosthetics that will allow people to “feel” like the prosthetic is part of their body. This research took the traditional model of a prosthetic hand and changed it to resemble a normal human hand with opposable thumbs. 

The new design of the hand focused greatly on the ability for the individual using it, to feel like that was their original hand and control it by muscle memory. The small voltage shock that is sent through the neurons interacts with the prosthetic and sends a current that allows one to feel the motion and perform the task. This process is done through computer programing and bio-physics engineering. The sensory motions are recorded and allow the prosthetics to perform tasks such as picking something up  or any sort of grasp by forming a grip. Prosthetics such as this one not only show a new way of use but are also different in the way that they are designed. Akhart’s research demonstrated that his team was abel to manufacture the hand at a lower cost through 3D printing. Not only was this accomplished in a new way, but the material that was used to make the prosthetic comes from off-shelf parts. Akhart’s research shows a new way of working with physics, computers and neuroscience in order to manufacture prosthetics that will change someone’s life. 

In, “A neural interface provides long-term stable natural touch perception,” Tan and his research team focused on sensory restoration of a lost limb. Their findings demonstrate that when human subjects underwent implants of peripheral nerves due to a limb amputation, they experienced a natural touch sensation or “tingling” feeling after a year. However, electrical stimulation when using implanted peripheral nerve cuff electrodes did not show a nerve “touch sensation.”  When a subject was able to develop an artificial touch sensation, the subject was then better able to control and grasp an object. The electrical stimulation of the peripheral nerves allowed the subjects to develop a long-term response that restored the sensory after the limb was lost. 

Both researchers focused on the sensation after a limb is lost. The sensation is what allows an individual to fully use the prosthetic when they are able to “feel” the motion. The nerves were shown to have reconnected into different areas of the body after a limb was lost. Some subjects have experienced the sensation of a lost limb when certain parts of their chest were touched. This rewiring of nerves after a lost limb has been used in research to restore sensory feedback. There are many different aspects of neuroprosthetics that are being studied now in order to manufacture the best possible prosthetic. However, currently the cuff electrodes that are used, were only able to stimulate 30-50% of the channels. The current research is headed in the right direction but there is still a lot that has to be done in order to allow people with prosthetics to “feel” again and have the ability to have full control of their prosthetic. 

Sources:

Sci Transl Med 8 October 2014: 

Vol. 6, Issue 257, p. 257ra138 

Sci. Transl. Med. DOI: 10.1126/scitranslmed.3008669

P. Slade, A. Akhtar, M. Nguyen, T. Bretl. (2015). Tact: Design and performance of an open-source, affordable, myoelectric prosthetic hand. The International Conference on Robotics and Automation, Seattle, WA.

The More Natural Treatment to Sleep Apnea

As we learned in Dr. Weaver's talk on the Neuroscience of Sleep Apnea, Obstructive Sleep Apnea is estimated to affect 22 million Americans and there have been numerous studies conducted to determine treatments for these millions of people who have multiple pauses in breathing during the night, are tired during the day, and are less productive on average. One of the common treatments used for sleep apnea is the use of a Continuous Positive Airway Pressure (CPAP) which applies a small amount of pressure as the patient sleeps in order to keep the airway open in order to avoid the pauses in breathing. However, this machine is not very practical in that it does not mimic how a person would normally sleep at night. They are wearing a mask and connected to a machine which is loud for the partner of the patient as well.

In the talk, Dr. Weaver spoke of the alternatives to the CPAP machine that have been developed. There are multiple options that patients can use, but one of the more recent ones to be developed has been Positional Therapy. With this, a patient puts a strap around their upper body where the device is positioned on the sternum. In the article, The sleep position trainer: a new treatment for positional obstructive sleep apnoea, a study was conducted on this new method in three phases: diagnostic, training and therapy. Patients were measured using this device for a month. During the first two days, the diagnostic phase was carried out where the device monitored and recorded the patient's sleeping positions. Following, there was a training period where the device began to vibrate occasionally when the patient was sleeping on their back, which is when the apneas are most likely to occur. After the training period, the device would vibrate every time that the patient was sleeping on their back, in a supine position. The point of this is to encourage the patient to roll over to avoid the apneas, but not to wake them up in the meantime. It was found to be more helpful with people that were labeled as "compliant," meaning that they did actually roll over when encouraged by the device. Those who were "non-compliant" would have the device vibrate in intervals of two minutes until the patient finally rolled over. It has been found that in a month time span that this device is very effective in that it lowered the severity of patients' sleep apnea, they got more sleep, and felt more productive after a better night's sleep. Patients were also encouraged to be continue with the positional therapy because they had the ability to view their sleep patterns, recorded by the device, on their computers.

Positional therapy has not been tested in the long term, but more studies are to come. This could be a much more natural way to sleep that is less likely to interrupt either the patient's or their partner's sleep throughout the night than the CPAP machine.

Maanen, J., Meester, K., Dun, L., Koutsourelakis, I., Witte, B., Laman, D., . . . Vries, N. (2012). The sleep position trainer: A new treatment for positional obstructive sleep apnoea. Sleep and Breathing, 771-779.
Weaver, T., Calik, M., Farabi, S., Fink, A., Galang-Boquiren, M., Kapella, M., . . . Carley, D. (2014). Innovative treatments for adults with obstructive sleep apnea. Nature and Science of Sleep, 6, 137-147.

Bipolar Disorder: A More Challenging Academic Life

          Academic success is not an easy endeavor.  I will be graduating from Loyola University Chicago in a couple of days and I can only reflect on the hard work I put into achieving this goal.  Students with learning disabilities must work even harder to reach the same level of performance as their healthy same-aged companions. Bipolar disorder (BPD) is a psychological condition that affects more than an individual’s learning ability.  In a study[i] involving the collaboration of University of Michigan Medical School, Jesse Brown Veterans Affairs Medical Center, and the University of Illinois at Chicago, it was demonstrated that BPD affects cognitive functioning, processing speed, and executive functioning skills (Weisenbach, 2014).  These affected domains lead to deficits in attention, memory, inhibition skills, and even social and emotional abilities – all of utmost important in education.  Furthermore, this study states that aging acts as a double-burden for individuals suffering from BPD, since the effects of normal aging affect verbal memory and executive functioning abilities that include inhibition skills regardless of disease status.  Since living with BPD poses great challenges, it is important for these individuals to find support early on in order to succeed academically and in life.

            Director of Counseling and Psychological Services at the University of Virginia, Russ Federmann PhD says, “Bipolar diagnosis isn’t a sentence, it’s a factor [young adults] have to accept and adapt to, but don’t we all have that in one form or another (Forbes, 2014)?”[ii]  It is during this time of life that bipolar disorder is most likely to surface either in form of a depressive or manic stage.  The episode is most likely triggered by the stressors surrounding the academic life of a college student combined with lack of sleep – it is during this time that individuals with BPD need most support.  The number of individuals with BPD going to college is increasing and, fortunately, universities are now more capable than ever to provide outstanding services for students with learning disabilities.

            I do not have BPD, however, I hope that the following advice may be of value to the reader:

Students with BPD, or any other condition affecting learning, should embrace their disability and be confident that success is more than possible.  Visiting the office of students with disabilities and becoming aware of the kinds of services they provide can make an enormous difference.  It is important, once again, to be confident of your abilities.  Federmann says most students are intelligent people.  “If they’ve made it through high school and they value the education, then you go the extra mile and you do what you have to do (Forbes, 2014). 

Second, finding a support system is very important, not just for students with learning disabilities, but everyone can have a bad week, or a bad semester, yet our support groups keep us going. 

From experience, my most productive study sessions were those surrounded by friends who valued the education as much as I did.  When closing my books and going home is all I wanted, looking around and seeing how I am not alone always gave me the strength to keep going. 

Finally, figure out what activities decreases your stress.  Whether it’s doing yoga, playing basketball, or an instrument, allowing yourself some time to relax is an important part of your academic life.  Fridays, for example, were my no-study days – at least I would try to make them so.  I would study every single day of the week, sleeping late and waking early, but Fridays were my days to relax.  Yes, sometimes my work would pile up and I would have to sacrifice my Friday if I wanted to stay on top of everything, but it is important to set aside some time for yourself, at least once a week.  It was during these days that I would go out for a walk, enjoy a movie, or go downtown.  Energies restored, the studying would continue the next day.

Along with many challenges, the life of a college student is filled with opportunities to succeed.  It is important for everyone to be aware and take advantage of the resources available to us.  Love and support form our peers can truly impact the way we experience our academic life and finishing triumphant is the much more rewarding when you stand next to those who battled together with you from the beginning.

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[i] Weisenbach. (2014). The double burden of age and disease on cognition and quality of life in bipolar disorder. Geriatric Psychiatry, 29, 952-961.

[ii] Forbes, E. (2014, August 8). Facing college. Retrieved April 24, 2015, from http://www.bphope.com/facing-college/