This disorder was thought to be an isolated condition, but doctors conducting follow-up studies on diagnosed patients are starting to rethink that. Anywhere from 80 to 100 percent of these RBD patients later develop neurodegenerative diseases such as Parkinson’s disease.

Doctors studying their patients conclude that there is a minimum of a 15 year difference between the onset of RBD and the onset of a neurological disorder. In some patients, the time between onsets was as much as 50 years. However long it is, this sleep disorder seems to prelude the disease by a significant amount of time. Doctors are hoping that this will allow the patient to be treated for a disease before the disease actually manifests. Perhaps one day if there is a neuroprotective treatment available, it can be used to treat these patients before the severe deterioration of their brain.

Scientists have recently identified a section of “junk” DNA that can regain function and cause disease.  The section of DNA is made of repeat regions of the same sequence.  They found that individuals who have 1-10 repeats on the end of chromosome 4 can develop one of the most common forms of muscular dystrophy, FSHD.  The goal now is to identify a way to turn off this once non-functioning gene.    

 One of the important insights from the resurrection of this gene is that although some diseases can be easily explained, others result from very complicated cellular interactions.  What other information will our “junk”DNA reveal in the future? 

To learn more about the effects of this gene being turned on read the paper published in Science:  http://www.sciencemag.org/cgi/rapidpdf/science.1189044.pdf

Well, it could be your family and it could be your environment. Studies have shown that addictions run in families. In fact, if a parent has an addiction, the child is 4 to 8 times more likely to have an addiction as well. It doesn’t necessarily have to be the same addiction, but an addiction nonetheless. Those with other family members with an addiction are more susceptible to the disease, but that also doesn’t mean that the disease is inevitable.

Saying that addiction runs in the family would speculate a possible genetic component. In fact, researchers are currently trying to link addiction to a cluster of genes in the human genome. Scientists are looking for “addiction genes” that are biologically different from others that might make someone prone to addiction. It also might affect the severity of withdrawals.

For example, in humans, a candidate gene for addiction includes the A1 allele of dopamine receptor gene DRD2 which is common in those with alcohol and cocaine addictions. Also, non-smokers are more likely to carry a protective gene, CYP2A6, which causes them to feel more nausea and dizziness from smoking.

Mice have been a model for studies on human addiction because the reward pathway functions in mice are very similar to those in the human brain.

Mice bred to lack serotonin receptor gene Htr1b are more attracted to cocaine and alcohol. Those with low levels of neuropeptide Y drink more alcohol while those with higher levels tend to abstain from alcohol.

It mainly all comes down to the reward pathway in our brains. The reward pathway is in the center of our brain and connects to other areas such as those controlling memory and behavior. It’s responsible for driving our feelings of motivation, rewards and behavior. The main job of the pathway is to make us feel good when we engage in behaviors essential to survival such as eating and drinking. Places in the brain gather information about what’s happening outside of our body and then strengthen circuits within the brain that control desirable behavior.

For instance, say you’re thirsty and someone hands you a cold water bottle. The brain will tell you that there’s cold water in front of you. Stored in your brain is a memory that says “if you drink that water, you won’t be thirsty anymore and you’ll feel good!” So you’ll drink the water. While drinking, you’re 5 senses will send a single to your brain about drinking the water. The brain, in response will release dopamine, giving you a jolt of pleasure which is your instant reward. The reward pathway will make you repeat the behavior for the same dopamine reward, like a dog doing a trick for a dog biscuit. The wiring in your brain for that particular activity has been strengthened.

Despite the genetic link, it’s not all due to our DNA makeup. Essentially, addiction is the combination of the interaction of several genes (not just a single gene) with social and environmental factors. Also, just because someone has all that’s necessary for an addiction doesn’t mean they’ll have an addiction problem. For example, I know I have an addictive personality but I look for other ways to expel or sedate the addiction and to put that addictive capability to better use.

Researchers have been searching for ways to treat and prevent addictions. One way is the identification of genes. The genes can become “drug targets,” in which researchers can work to modify the gene product’s activity resulting in stabilizing or reversing pathways to restore the brain to proper function.

Earlier this year, researchers at UT Southwestern Medical Center have a new hypothesis. They hope that by increasing a process known as neurogenesis it might prevent or treat addiction. Neurogenesis is a normally occurring process of making nerve cells in the brain. In previous studies, blocking neurogenesis had increased a rodent’s vulnerability for cocaine addiction and relapse. They hope that by stimulating the increase of neurogenesis, it might combat addiction. Another application is to use this increased neurogenesis in situations where a patient is required to use a potentially addicted medication such as Vicodin, a severe pain killer with a high addiction rate. Perhaps this treatment may be used in those who have quit their addiction in order to prevent a relapse.

Recently, new research focusing on microRNA (miRNA) and gene expression might also have a potential effect on the fight with addiction. miRNAs are used in gene expression regulation and gene silencing. They bind to complementary mRNA strands and prevent translation to a protein. Raising the levels of miR-212, an miRNA, in the brains of cocaine-using rats have caused the rodents to take in less of the drug. Completely blocking the miRNA, and allowing full gene expression, increased the drug use. This would suggest a new drug target- a medication to raise miR-212 levels or at least creating something to mimic the miRNA’s function. Liked to miR-212 is an increase in the protein CREB. CREB holds promise in fighting drug addiction by decreasing the reward response, sometimes actually creating an aversion to it all together. The only obstacle with CREB drug targets is the regulation of it. The level cannot become too low (where the rewards are increased) because it can lead to addiction and anxiety, but it cannot become too high (where nothing is rewarding) which can lead to depression. This study has only been done with cocaine and is currently under investigation for the applications in nicotine and alcohol addictions.

Someday, possibly, there will be ways for those suffering from addictions, whether they be chemical addictions, which is heavily mentioned here, or an addiction to more physical things to overcome that addiction and lead healthier lives.

After conducting a bacterial transformation lab with my students, where we genetically engineer the bacteria to make a jellyfish protein that fluoresces, we always jump into the discussion of why this technique is important.  I always try to get the students to think of ways that this could benefit them.    

Among other uses, we finally get to the idea that these bacterial cells can be used as factories to make any protein you want, even human proteins.  It all depends on what recipe, or gene, you give them.  If you give them the recipe to make human insulin, they will. And then this insulin can be used to treat diabetes. 

They can see the benefits when discussing bacteria, but once I show them a picture of a multicellular organism that has been engineered with this protein, such as a pig or monkey, the debate begins to heat up.  That while the protein is harmless to the organism, they don’t fell it is necessary to make pigs glow.  While this may be true, many researchers would beg to differ. 

Researchers use this protein in many studies that were once invisible.  If they are studying the production of a protein, maybe when the protein gets produced during development, or in what type of cell it gets made, they can visualize this process with the help of the green fluorescent protein.  This will hopefully give insight to many disorders that result from the faulty production of a protein.  We need to see how and when the process works normally to gain more information about when it does not work.  Then we can hopefully use this information to fix it.

Many debates arise during discussions involving genetic research because of the potential benefits that could arise from the study, while disturbing a few people or groups along the way.  These are good discussions to have with students though, as they may be faced with decisions in the future about potential career choices or matters that will affect them on a more personal level.

Another reader wanted to know why there are cures for other diseases, but not for cancer. There are many reasons for this, of which I’ll mention a few. First, cancers are the result of our own cells acting abnormally. This means that many of the treatments we might want to use to kill cancer cells would also kill our normal cells. The challenge is to identify the differences between our normal cells and their cancerous relatives and then to identify weaknesses in the cancer cells. This in itself is very difficult. However, it is much more difficult because cancers are not all the same. As I mentioned above, cancers in different tissues arise by distinct changes, so a drug for one cancer may have no effect on another. Even worse, different cancers within a particular tissue are different. In fact, within one tumor, the different cells can have different mutations, and these can affect how the cells respond to therapy or allow the cancer to develop drug resistance. So, cancer isn’t just one disease- it is many related diseases. In fact, calling for “a cure” for cancer isn’t really fair; what will be needed are many cures for this family of diseases.

I know I’ve probably produced more questions than answers, but I hope that this helps some of you.

HIV (in green) budding from an infected white blood cell

We are in the midst of a media explosion surrounding the possibility of a vaccine for HIV. For years this has seemed a hopeless situation, so a great deal of effort and money has been spent on the campaign to educate people about transmission and prevent infection. Unfortunately, according to recent reports (http://www.mg.co.za/article/2010-07-12-hiv-vaccine-the-only-real-answer), the number of new infections is still an alarming 7400 per day!  In addition, less than half of the 9.5 million people in low-middle income households infected with HIV have access to anti viral treatments. 

These staggering statistics demonstrate very clearly that efforts to help infected individuals are available and do reach millions, but they just aren’t enough.  Development of a vaccine, probably the best method of prevention, has been an extremely slow process. Students ask about this all the time. If scientists can eradicate small pox, if they can make a new flu-shot every year, then why can’t they make a vaccine for HIV? The virus mutates so quickly that once infected, the host harbors any number of viral variants, all unique!

Interestingly enough, one in four patients infected with HIV carry two very strong anti-HIV antibodies that seem to neutralize 91% of HIV strains (http://www.webmd.com/hiv-aids/news/20100709/antibodies-discovery-may-pave-way-to-aids-vaccine ). Why don’t they work? They usually aren’t produced until the infection is rampant, and by the time they are produced, the virus has begun to mutate!  So, the thought process is this: if individuals were given a vaccine that elicited the production of these antibodies before exposure to the virus, they would likely prevent infection upon exposure. The key now is development of the vaccine, and then dissemination to regions in need.  

The identification and isolation of these antibodies have shed some light on what seemed to be an almost hopeless situation. I look forward to the next five years of research in this field and believe that there will be a vaccine in the next 10.

“Better Babies” contests, originally conceived to promote child welfare and physical development, were the first eugenics contests run at a state fairs (the first held in 1908). By 1920, “Fitter Families” contests were also held at state fairs, where human “stock” was judged alongside cows, pigs, and produce. Contestants completed family trait forms, were examined physically and psychologically, and were graded and awarded prizes as a result. The image below may indicate that there was even a swimsuit competition!

Visit the topics “Better Babies Contests” and “Fitter Families Contests” on the Image Archive on the American Eugenics Movement site to explore images of the movement.

Typically, Alzheimer’s is diagnosed through cognitive testing.  Family members or health care professionals may realize that a person is experiencing forgetfulness, disorientation, or other symptoms. Unfortunately, by the time these symptoms are apparent and a diagnosis is made, the patient may have already experience a great deal of brain damage.

A new method to test for Alzheimer’s at a much earlier stage of the disease has been described in a paper in the journal Neurobiology of Aging, (10.1016/j.neurobiolaging.2010.04.025) where Laurel Beckett et.al. describe  a method of diagnosis based on a combination of imaging and sampling of cerebrospinal fluids to categorize individuals into at-risk groups before clinical signs of Alzheimer’s appear.

This important work could have a two-fold impact on the fight against Alzheimer’s. By identifying at-risk patients early, medical intervention may be able to at least delay the onset of the disease. The early identification of at-risk individual also would accelerate the development of clinical interventions because you have now isolated a population that can participate in clinical investigation and broaden the horizon of time investigators have to work with, increasing the rate at which further discovery can proceed.

E. coli gets a bad reputation and I understand that. My students immediately cringe and I know what goes through their minds. They think of the E. coli outbreaks we’ve had in our foods as of late such as the ones that are leading to cases of severe food poisoning and death. I can quickly reassure them that this bacteria does not have this capability. In fact, many are surprised to learn that not all bacteria can cause harm.  With the bad also comes the good and there are good bacteria as well. 

Bacteria have taken up residence everywhere on and in you. Hundreds of species of bacteria live on your skin, live in your mouth, and in your intestines. Everyone is born sterile (completely clear of bacteria), but soon after birth bacteria moves in and multiplies enough to include more bacteria cells than human cells in your body. 

Don’t get too grossed out! These bacteria strains are important. For example, Biologist Jeffrey Gordon of Washington University has a group of mice that are completely gut bacteria free. These mice are very different from their non-sterile cousins in the way that they are extremely skinny. Food passes right through their intestines, mainly undigested. Thus it is shown that the gut bacteria are more efficient at digesting our food than we are alone.

Today, the bacteria in our guts seem to do more things than originally thought. They are currently under investigation in studies of Autism. There is a hypothesis that these gut bacteria might be releasing chemicals that are contributing to the onset of Autism. Autism has already been linked to gastrointestinal problems. These gastrointestinal problems also seem to appear around the same time as behavior symptoms, so perhaps these gastrointestinal microbes have something to do with it.

Researchers in the UK are studying chemicals in the urine of people with Autism compared to those without the condition to detect any chemical differences. These metabolic changes might be detected in the urine. Using nuclear magnetic resonance (NMR) spectroscopy, the urine was analyzed. The results showed a clear difference between the two groups.

There is a theory that these gut bacteria are producing a toxin that might interact and disrupt brain development. One compound that was identified using the NMR spectroscopy was N-methyl-nicotinamide (NMND) which has already been linked to Parkinson’s disease.

At the University of Western Ontario in Canada, Derrick MacFabe and his colleagues have discovered that clostridium bacteria produce a short-chain fatty acid that many cause autism-like behavioral and biochemical changes in rats that can be reversed.

With this possible link, there might be a simple urine test for Autism. This test, done early enough, might then lead to earlier therapy and treatment options.