A researcher named D.M. Eccles wrote an article about developments in genetic testing for Breast, Ovarian and Colorectal Cancer Predisposition in an effort to illustrate how this new testing could aid doctors in finding cancerous cells early in development or prevent them before they even develop.

Eccles started by explaining over years of prior research into where cancer comes from he explained that it had been discovered that in the 1980’s the first high risk cancer susceptibility genes were (FAP) Familial Adenomatous Polyposis which is when numerous polyps form in the epithelium of large intestine which can develop into colon cancer if not treated. Then along in 1993 there arose a condition known Lynch Syndrome which is known as an autosomal dominant (expression of non sex genes) genetic condition that has risk for ovarian, colon, and some skin cancers. Then the following year in 94’ in the BRCA 1 and BRCA 2 genes researchers found the location and sequences of both these caretaker genes are found in the breast and that stabilize genomes and repair DNA. If these are damaged then they aren’t able to fix DNA and can’t be fixed themselves which comes to yield cancerous results such as breast and ovarian. So after finding out these things researchers have started using genetic testing in a clinical aspect to figure what genes are forcing which types of cancers to occur. For example, if there was gene mutation in the BRCA1 and BRCA 2 proteins in someone’s family and all those affected were deceased and researchers tested someone from the family who was unaffected but at risk may reassure that fact that this mutation brought about ovarian cancer. But in actuality after testing the cancer could’ve come from a mutation in the RAD51C and RAD51D genes. These are a set of genes that are responsible at a high risk for ovarian cancer and possibly breast cancer if the genes happened to be mutated. So all the reason for the genetic testing is to distinguish between these and figure out with of these genes can be targeted as the one developing into becoming cancerous.

The specifics of how to figure out which genes to target for cancer prevention where narrowed more as Eccles discussed gene expressivity and penetrance. Not all people who carry the gene that makes predisposed to cancer will ever develop it which is known as incomplete penetrance. So in a family that may contain a mutation can have predictive genetic testing done to identify if the high risk gene. People who have (FAP) with polyps that are benign and may be on the verge of them becoming carcinogenic usually have mutation genetic testing which will identify where the causative mutation is in the gene. If that is discovered then a predictive test can be done on any member of the same family to have target surveillance on all the gene carriers. So even though colonoscopies, self-breast examinations, and oophorectomy are classics in detecting colon, breast, and ovarian cancer researchers are trying to push these new methods in genetic testing to catch these cancers fairly early on.

James

Kaitlyn Culler

BIO 305

30 March 2012

There has been an increase for the need in the number of donors for organ transplant, Because there is such a high demand but a major lack of human donors, many people have died while waiting to receive a transplant. Researchers are trying to find alternatives by performing organ transplants in animals like pigs and monkeys. A study was done by transplanting pig livers into baboons to see if the organ was compatible with that of the baboon and if liver function was possible. The pigs were genetically modified by implanting a gene for a human regulating protein or deleting that produces antigens in which human have natural antibodies for. Six baboons received liver grafts from the genetically modified pigs.

The surgery carried out was typical of that used in human liver transplants. The baboons were then followed up for measurements over the next 4 to 7 days to test for levels of liver enzymes, clotting factors, and protein production. The presence of proteins was tested using the Western blot, which is used to test the presence of specific proteins in a sample of tissue. In four of the baboons clotting factors were measured. Tests were also run to determine how much the pig liver complemented the activity of the baboons’ bodies and biopsies of the liver were taken two hours after surgery and after death of baboons. Out of the six baboons tested, one survived seven days, three survived six days, one survived five days, and one survived four days. Except for the baboon that died within four days, the remaining five showed signs of liver function.

Liver failure can be detrimental to a person’s life, and since there is a shortage of human organs for transplants, finding alternatives is very important. Even though there were detections of liver function in the baboons, sufficient liver function and the production of pro and anti- clotting factors would need to be assured. There have been a few studies that prove that a liver graft would be sufficient for human transplant. One study done in 1993 did a baboon to human liver transplant; the recipient survived 70 days, and normal liver function was reported.

I found this article very interesting because I plan on going into the health field and this is a very important aspect of a health and medicine career. Research like this is very important not only to be used for liver transplants, but for other organs as well. The life expectancy of the older generations is greater than it used to be, so the number of organ donors has decreased, and more people are dying because the demand of the number of transplants available is greater than the supply currently available. If researchers can find a way to use animal organs for human transplants, the new doors opening in the medical world would be endless. Doctors would not have to worry about patients dying while waiting for a much needed transplant, and so many patients would have a chance for a longer and healthier life with this advance in genetics and medicine.

Genetically
Modified Plants
The article that I read was titled, “Suggested
Improvements for the Allergenicity Assessment of Genetically Modified Plants
Used in Foods.” It spoke of a lot of the genetically modified plants that are
being grown today in fields around the world and how we are not too sure if it
is affecting the human population or not.
With the human population rising in great numbers
every day so is the amount of land that is occupied by humans. This forces the
farmers to grow on smaller areas and have less of an ability to have a crop
that might die. Having less room for error leads the farmers to genetically
modified plants that can withstand certain pests or diseases without having to
apply a type of pesticide. Today there is pest resistant corn, cotton, soybeans,
potatoes, etc. There are also plants that allow you to apply herbicide or a
pesticide directly to the plant without hurting it.
The modifying started globally in 1996 with farmers
planting 4.3 million acres in genetically modified plants and by 2009 were
planting 335 million acres. This is a huge jump in just a short amount of time,
but the farmers saw the great asset to having modified plants in their fields
that it would save them money in the long run. In the future this number will
increase greatly and will probably go to where all that the farmers are growing
are genetically modified plants.
Moving to all modified plants will not happen
overnight because of the fact that the testing of the plants to see if they are
going to work up to the standards of the farmers and the organizations that
regulate the modifications takes eight to twelve years. The FDA oversees the
Codex Commission which is the main organization that overlooks the development
of a genetically modified plant to make sure that there are no major problems
with the plants. The main thing that this commission looks at is the allergies
that people have and make sure that there is not going to be any allergic
reactions to the plants because of the use of a type of gene.
One of the main programs that the Codex Commission
uses to see if there is going to be any negative reactions to plants is by
looking at the sequence of the DNA through a program called BLAST. The purpose
of looking at the DNA sequence is to see if the plant is going to sensitize an
allergy in a consumer. These tests use heat to find the stability of the
proteins that are being used in the altered plants and make their observations
to tell the regulators of FDA and Codex if the plant passed or not.
The number one thing that makers of GM plants worry
about is if their plants are going to cause harm to the consumer of their
product. The harm that they most of the time think about is all of the
different allergies that people have to the proteins that are being placed in
the plants to make them resistant to certain things. The steps of precaution
that they take are very extensive to insure that they do not get lawsuits when
they release the new plant.
Genetically modified plants are something that I
think is going to take over in the agriculture industry and make it such a
better market for the farmers and the consumers. Although I do think that the
testing needs to be on point because we don’t need to have plants that are
going to do harm to humans.

Works Cited

Suggested Improvements for the Allergenicity Assessment of Genetically Modified Plants Used in FoodsRichard E. Goodman, Afua O. TettehCurr Allergy Asthma Rep. 2011 August; 11(4): 317–324. Published online 2011 April 13.

-Patrick

Human Cloning a decade after Dolly

The article that I picked to read was entitled “Human Cloning a decade after Dolly.” The main points of this article was to show how the cloning came to be, the reactions that occurred after Dolly was made and the current standings with the whole concept of animal and human cloning.

It was February of 1997 when the news first broke about the successful cloning of the infamous sheep, Dolly. Cloning had been a concept that interested many scientists for years before this first became a reality. As you can imagine, when the news broke that there had actually been a real, successful cloning of an animal overjoyed many people. However, with every good thing, there comes a bad to follow. It seemed that there was an equal amount of people that did not feel comfortable at all with the whole concept of cloning. Some people felt that it was just one hundred percent wrong to try and “Play God.” This controversy soon would have a very large impact on the further practices of animal cloning and the interest to try and clone humans.

The process of cloning Dolly was done by somatic cell nuclear transfer. Somatic cell nuclear transfer is basically making a cloned embryo by means of a donor nucleus. To put it layman’s terms, you first possess a an embryo with a nucleus. You then take that nucleus out of that embryo and discard it. Next, you obtain a second embryo that will in turn have your donor nucleus. From here, you will take out that donor nucleus and then place it in the empty embryo from your first step. After you place that nucleus into the new host embryo, the new nucleus will then be reprogrammed by the host egg cell. After it has been reprogrammed, you are then going to shock that nucleus that will in turn begin the division process. From here you will let it divide over and over again until you have a living organism. To me, in the grand scheme things, it does not seem that complicated at all. I am not saying that I could walk into a lab tomorrow and perform it flawlessly, I am saying that the whole process seems pretty practical on getting success. All you really are doing, is switching things around so to say.

As I mentioned earlier, with every good thing, there will always be a bad to go along with it. In the case of researching and performing both animal and human clones, there were and are many people that do not want this to happen at all. A prime example of this is the fact that it took the United Nations three whole years to try and work up an agreement to make a worldwide ban on human cloning. The UN ended up settling on an “ambiguous non-binding Declaration that calls upon countries to prohibit all forms of human cloning that are “incompatible with human dignity” (Human Cloning a decade after Dolly)

All-in-all, my opinion does not really matter in the grand scheme of things, but I believe that it would probably be in our better interest to just leave human cloning alone and try and move onto bigger and better things.

-Mitchell

Genes may increase susceptibility to Crohn’s Disease.

First thing’s first, defining Crohn’s Disease. The A.D.A.M. Medical Encyclopedia defines Crohn's disease as “a form of inflammatory bowel disease (IBD). It usually affects the intestines, but may occur anywhere from the mouth to the end of the rectum (anus).” It’s a chronic disease, meaning it doesn’t outright kill you, but you will always have it. The opposite of chronic is terminal, like cancer, so you can have perspective on the difference. A majority of patients who have it are Caucasian, with a European descent.

Now, I have an 18 year old cousin who personally has the disease, and let me tell you; the Medical Encyclopedia’s definition shows nothing about what an actual person with the disease goes through. There are radiation treatments for the cysts that form in the body, there are multiple pills and shots, and you are on such a strict diet due to what can affect your body. And there is no cure for Crohn’s, and they don’t even know what causes it. However, I read an article where they are starting to figure out that there are some genes that can cause a person to be more susceptible to getting the disease.

Now, finding genes that makes you more susceptible doesn’t necessarily mean they cause it. Environment does play an important factor in getting Crohn’s disease, it just isn’t entirely known how. There are certain genes that control certain things like pattern recognition receptors which are part of the immune system. They help identify pathogens and show damages that need to be fixed in the body. A gene that is actually quite crucial to pattern recognition receptors is CARD15 or Caspase Recruitment Domain Family member 15, which seems to not only show that people with it are susceptible, but also that it, is a “gene-modifier” for Crohn’s Disease.

CARD15 is involved with genes who serve as resistance to infections. There are 30 polymorphisms (possible changes) in the gene itself, three of which are common. The three are involved in 82% percent of the mutations that happen in the CARD15 gene, one being 1007fsinsC, which shows a lack of 33 amino acids that are involved in the activation of the transcription NF-κB. The reason CARD15 is important is because it deal with proteins and recognizes certain bacteria that are harmful.

To show its importance to Crohn’s disease in general, CARD15 mutations are found in 35 to 40% of Caucasian patients with Crohn’s disease.

There are also many other areas that genes are being found to affect when it comes to Crohn’s, including the epithetial’s that line the intestinal tract and secondary immune response.

Finding the genetic mutations that can make one susceptible to getting any IBD is actually an amazing breakthrough for Crohn’s disease and for other IBD’s, because little has been known about where the disease stems from and how to cure it leaving many, like my cousin, without hope of being rid of the disease in their lifetime.

This breakthrough could give better treatment to patients, and hope that there will be a day that they won’t have to worry about the disease affecting their everyday life.

-April See

Tsianos, Epameinondas, Konstantinos Katsanos, and Vasileios Tsianos. "Role of genetics in the diagnosis and prognosis of Crohn's disease." World J Gastroenterol.. 18.2 (2012): 105-118. Web. 18 Mar. 2012. .

Genetics behind cancer and how screening can lower risk factor

Corey Glessner

Genetics behind cancer and how screening can lower the risk factor.

The advancement in molecular genetics has allowed medical personal to figure out cancer risk in humans by screening. Early detection of cancer can decrease the risk and allow the physicians and patients to make better decisions. This article uses gastrointestinal tract cancer as an example and in turn can show how other cancers can be screened using the same method.

Screening parents for hereditary cancer allows the physicians to watch over the offspring and allow for better decision-making between the physician and patient. An example would be Watson et al screening of relatives to determine risk assessment in other family members and in turn would decrease the risk of cancer in other family members.

Familial Barrett’s Esophagus (FBE) has been analyzed by taking data on 881 singly ascertained pedigrees to determine if environmental or genetic agents are a factor. If they are genetic then what is passed along to cause FBE. There is one major inheritance transmitted from one generation to the next. There are 1 or more rare autosomal inherited dominant susceptibility alleles in FBE families.

There are two major categories of gastric cancer. The more popular one, which is found in the general population more has been proven to be due to environmental such as a person diet. The other one has been proven to have a trait passed along throughout generations. The use of different genetic tools were use to determine the odds of the gastric cancer passed down in families once the mutations were noted and followed.

There were more cancers screened such as Familial Adenmatous Polyposis, which is inherited in an autosomal dominant pattern. FAP has shown up in 1 out of 8,000 people and one third of the people have shown no family history and in this case the mutation must have happened in the single person and can be possibly passed down to his or her offspring.

Lynch Syndrome can be managed better if it is found out early on that the patient is carrying the mutation. The evaluation of genomic applications in practice and prevention has reported that the overall validity of the test run to found out if the potential for lynch syndrome is really good. If it is in your family tree the institute of medicine recommends testing other family members even if it isn’t immediate such as sons or daughters.

Screening has allowed for the discovery of who is harboring what genetic mutations and better decisions can be made and steps can be taken to prevent the mutation from being passed along or showing up in other generations. Figuring out and screening early on should be done to anyone in your family if a mutation was found in your parents because there is no telling how far the mutation has been in your family.

Lynch T Henry, Lynch F. Jane, Shaw G. Trudy. Hereditary Gastrointestinal Cancer Syndromes. Gastrointestinal cancer Research Volume 4 issue 4. August 2011

Genes affecting memory

Ah memories, they can be good, bad, easy to remember, and sometimes hard to forget. We all have them, we all need them, and we all have experienced this scenario: walking into a room with a purpose and completely forgetting what that purpose is, leaving the room and immediately remembering what it was. There are three types of memories: sensory, short-term, and long-term. They are categorized as such depending on the length they will last. Memories are formed by experience; you remember how to do something such as kick a soccer ball because you have done it before. Genes in the human genome gives humans the ability to learn and remember everyday experiences. There are 23,000 protein-encoding genes in the human genome which can influence one’s memory. These genes affect how the brain, brain structures, and individual neurons develop; and how they are sustained over one’s life. This article highlights the links between gene function and memory in humans, mice, and the common fruit fly.
The mutation of the gene Fragile X Mental Retardation Protein ( FMRP) is a RNA-binding protein which is associated with learning disabilities and very often is the cause of inherited mental retardation in humans. This mutation causes FMRP to not bind with RNA and ends up not showing up in one’s genetic code. This loss of FMRP causes changes in brain functions in humans. However, it only causes little physiological differences in the brain. In the fruit fly and mouse the loss of FMRP causes learning deficits and suggests this is a common role for this particular gene. FMRP is necessary for the expression of several other genes making it hard for researchers to connect FMRP to a specific gene sequence.
A mutation of a protein Presenelins(PS) and Amyloid Precursor Protein(APP) genes are a major cause to Alzheimer’s disease. In the animal models, mutated APP and PS lead to an accumulation of a toxic APP molecule outside the cell. This forms into plaque deposits which contribute to neuron loss. This suggests APP and PS are needed to maintain neurons and the nervous system from degeneration and alteration of memories.
Cyclic Adenosine Monophosphate(cAMP) is a common messenger in cells. Another protein Adenylyl Cyclase(AC) helps produce cAMP when it receives two signals, one form calcium and another from a guanine nucleotide-protein( G Protein). Calcium corresponds to sensory and G Protein corresponds to a reward or punishment. Mice and flies which are mutant for any of these proteins do not make memories well. This is because cAMP is required to activate other proteins needed for memory storage.
The aforementioned genes are required for our ability to form memories. These genes establish, maintain, and regulate the physiology of the nervous system as a whole. This study showed how mutations in one’s gene can affect learning and remembering information. So next time you go to kick a soccer ball, drive a car, memorize ratios of Mendelian Genetics, remember it is all possible in part because of properly functioning genes in your body.

-Nelson Elmore
Source
Daniela Ostrowski, Troy Zars, "Genetics of memory," AccessScience, McGraw-Hill Companies, 2011, http://www.accessscience.com