Genes, Not Just Cells: A New Lens on Breast Cancer Risk

 Researchers at King's College London have discovered that women diagnosed with in-situ carcinoma (abnormal cells in breast ducts or lobules) face varying risks of developing full breast cancer based on their genetic makeup. In a study performed over 2,000 women with ductal carcinoma in situ (DCIS) and nearly 200 with lobular carcinoma in situ (LCIS), a genetic blood test using 313 markers assisted in predicting cancer risk. Women with DCIS who scored high on the test were twice as likely to develop cancer in the opposite breast. Meanwhile, those with LCIS had twice the risk of developing cancer in the same breast. This genetic test in combination with family history greatly enhanced the accuracy of identifying women at higher risk.

The findings imply that treatment and monitoring for women with DCIS and LCIS should not rely only on how abnormal cells appear under a microscope. Lead researchers highlight how genetic testing and family history should be part of the decision-making process. This broad approach could allow doctors to better personalize care. This could help women make more informed decisions about treatment options like surgery or hormone therapy. 

This study emphasizes the growing importance of precision medicine in cancer care. By combining genetic insights with traditional pathology, doctors can provide more accurate and individualized treatment plans. This will ultimately improve outcomes and empower women to take an active role in their health decisions.

Is There a Gene Complex That's Linked to Premenstrual Mood Disorder?

    Research conducted by the National Institute of Health show a correlation between dysregulated expression in a suspect gene complex and a disorder in cellular response to estrogen and progesterone. Researchers have discovered possible molecular mechanisms that may determine a woman's susceptibility to severe irritability, sadness and anxiety leading up to her menstrual period. These symptoms can be classified under PMDD(premenstrual dysphoric disorder), a severe chronic disorder that affects two to five percent of women both physically and mentally. This establishes that women with PMDD have a profound difference in their molecular apparatus for response to sex hormones than a woman without PMDD. This supports the argument that PMDD symptoms are not just "emotional behaviors" women should be able to control. There is a clear cut genetic difference between women with and without PMDD. 

    In women with PMDD, researchers found turning off estrogen and progesterone eliminated PMDD symptoms, while experimentally adding back the hormones triggered the re-emergence of symptoms. This confirmed that they had a biologically-based behavioral sensitivity to the hormones that might be reflected in molecular differences detectable in their cells. This gives plausible evidence that abnormal signaling in cells is responsible for their abnormal behavior, and sensitivity to estrogen and progesterone. 

Genetics and Polycystic ovary syndrome (PCOS)

 

Polycystic ovary syndrome is a hormonal imbalance in women which can cause problems with the menstrual cycle and pregnancy. The genetics with PCOS is not fully understood but early diagnosis and treatment can prevent the long-term effects. There are proteins that are involved in PCOS an there are 43 proteins that are responsible for PCOS which is shown in the image above. People who have PCOS can have high levels of androgen as well as small cysts on their ovaries and can get missed or irregular periods. Each of these proteins can are located on a different locus and chromosome. 

Can exercise combat Alzheimers?

Over the years numerous studies have shown that exercise not only improves our overall health, but also our memory and cognitive skills as a whole. How is this exactly?
Neuroscientists have figured out that the strength of our synapses is dependent on how we live our lives. Between sleep, diet, stress, and more, the stronger the connections, the stronger our memories and cognitive function. Not surprisingly, dementia/Alzheimers is a product from changes of energy usage in our brain cells. A study published by Nature Medicine explained how exercise protects our brains on a molecular level through the hormone irisin. Irisin is a hormone secreted in our muscles to the brain during exercise that starts biochemical reactions related to energy metabolism. Analyses of diseased and normal brain tissues taken from brain banks showed low to nonexistent concentrations of irisin in those who died with dementia and vice versa. However, scientists looked to mice for more information.

Mice bred with dementia were injected with irisin and performed better on memory tests than healthy mice injected with a beta amyloid inhibitor (creating dementia). Their synapses functions were mirror images to their performance during the tests. A more important test involving direct exercise: mice worked out for 5 weeks (running and swimming) with some mice injected with the inhibitor before hand. The healthy mice performed well on memory tests even after being exposed to the inhibitor post workout. However, the previously effected mice performed just as badly on the tests as the dementia effected mice from the experiment before.
Researchers are not 100% sure how much irisin effects humans, but know enough based off of their experience with lab mice, that exercise plays a prominent role is fighting or postponing dementia/Alzheimers.

Opinion: I find it amazing that irisin was not found until 2012 and we are just figuring out that maybe around 30 minutes of daily exercise is not just good for loosing weight, but cognitive function. Hopefully more research on humans is done soon, so we can all stay active for better reasons. This might even push the middle school kids harder during gym class.

Exercise could prevent the progression of Alzheimer's symptoms.

The New York Times published an article written by Gretchen Reynolds who commented on a study pulished in January, 2019, by Nature Medicine. This study explored the connection between exercise and prevention of memory loss. The hormone Irisin and its impact on the brain is the focus of this study. Based on sufficient scientific evidence, it is agreed that exercise can increase the ability of the brain and cause it to function at a higher capacity. The specific function of the brain and what exact mechanism causes this to occur is unclear. It's confirmed that Irisin is released during exercise, this being known, scientists hypothesize that the hormone Irisin is responsible for the improved function of the brain, specifically prevention of memory loss. Prior to testing their hypothesis, Irisin needed to be found present in the brain. Once the hormone was confirmed present in the brain tissue of humans, the scientists set out to test the connection of this hormone to memory loss. Scientists who studied Alzheimer's, arranged a series of tests involving mice. Multiple tests were performed, analyzing different combinations of healthy mice and mice who had been bred to develop Alzheimer's paired with varying levels of Irisin. The results of the experiments suggested that increased levels of Irisin in the brain can help prevent the progression and severity of Alzheimer's. It was concluded that exercising can indeed enhance your brains function of memory through the increase of Irisin that is released during physical exercise.

Balancing going to college with working and family responsibilities can be challenging. Exercise is frequently pushed to the bottom of our To-Do list. We frequently associate exercise with our outward appearance, whether it is losing fat or gaining muscle. When our outward appearance is not a priority in our life, we neglect exercising because it is "not necessary". However, this article proves that your physique is not the only thing that benefits from exercise. Once you incorporate regular exercise into your life, you may find that you are scoring higher in your college classes and remembering family memories with clarity. It is important to remember that a lot goes on below the surface of our bodies. A few minutes of cardio a day can make a world of difference in the quality of your life.

less body fat but higher blood pressure and pear shape

The University of Copenhagen conducted new research about people with the gene variation FGF21 (fibroblast growth factor 21). FGF21 hormone acts as insulin-sensitizing, meaning it improves the sensitivity of peripheral tissues to insulin, this helps diabetics with lowering their insulin needs. Through the reseach it has been found that FGF21 hormone is linked to less body fat, higher blood pressure, and a more pear shaped body. People with this gene variation consume on average more sugar (they have a higher craving for sweets). This comes as a shock to the researchers due to a lot of information about how sugar is the cause for more fat storage in the body. More sugar more body fat. however with this gene variation it is shown that they eat more sugar and have less body fat. This is still only a small portion of the larger picture of sugar and obesity/diabetes' said Professor Niels Grarup from the Novo Nordisk Foundation Center for Basic Metabolic Research. The FGF21 may help in lower body fat then others who do not have it but it also increases the change of higher blood pressure and more fat pockets in the waist (creating a pear shaped body). They hope that with this new knowledge it will be important for the creation of drugs. This also will help with later studies.

References

https://www.sciencedaily.com/releases/2018/04/180411111013.htm

http://www.cell.com/cell-reports/fulltext

Platypus Venom As a Diabetes Treatment

It appears that Australian researchers have discovered something quite remarkable. The animal pictured above, known as a platypus, has poisonous venom, but this very venom could be used as a treatment for diabetes. In the gut of the platypus a hormone is produced that regulates blood glucose, this same hormone is also found in their venom. This research was led by Professor Frank Grutzner at the University of Adelaide and another Associate Professor Briony Forbes at Flinders University. The hormone that is discussed is called glucagon-like peptide-1 or GLP-1 is typically secreted in both human and animal gut which stimulates the release of insulin to effectively lower blood glucose. Unfortunately, this GLP-1 is known for degrading within minutes. Those with type II diabetes cannot maintain a proper blood sugar balance due to the short stimulus triggered by the GLP-1 which is why they need medication with longer lasting form of the hormone. Besides platypus's, another type of monotreme, the echidna, have been evolving changes in the hormone. These changes make GLP-1 resistant to the degradation previously mentioned that is normally seen in humans. Within these two monotremes, they degrade with a different mechanism. When they continues to analyze the genetics of these animals, there seemed to be a "molecular warfare" between the function of the hormone.
There are different functions of the GLP-1 in the platypus. In the gut, it is used as a regulator of blood glucose, but in the venom it is mostly used to fend off other platypus males during breeding season. This battle of the functions changes the GLP-1 mechanism but also has created the evolution of a stable form of the hormone which is a highly desirable as a potential type 2 diabetes treatment. This breakthrough is incredible and I think its so interesting that something seen as poisonous to a human can actually end up helping someone with one of the greatest health challenges, diabetes. I think further research in this is necessary and it will be awesome to see how it is converted into a possible treatment.

Lowering blood sugar with a new hormone

Insulin is a hormone produced in the pancreas to regulate the amount of glucose in the blood. There is also another hormone that can do this as well, a newly found hormone. It essentially can the the same job as insulin can by sending the glucose out of the bloodstream and into muscle. This hormone comes from fat stem cells which could lead to a new treatment on lowering blood sugar and possibly improve metabolisms.



This new finding came from the University of Texas Southwestern Medical Center. What they did to come to these results was manipulate fat stem cells in mice. They found that the mice showed very low blood sugar levels because their muscles were taking glucose by twice the usual rate. This also led to the discovery of  mice having lipodysteophy had a generally low blood pressure, which in most cases would have high blood sugar and possibly diabetes.

 

Mechanism Sheds Light on How the Brain Adapts to Stress

According to an article from ScienceDaily, Dr. Gil Levkowitz and his colleagues from the Weizmann Institute of Science in Israel have recently published findings exploring the mechanism of corticotropin-releasing-hormone gene (CRH).  CRH is a hormone which is released in response to stressful stimuli that provoke a 'fight-or-flight' mechanism in biological animals.  Inappropriate metabolic regulation of CRH has been shown to be correlated with multiple human psychiatric disorders.

What I found very interesting about this article is the scientists' methodology in investigating general as well as specific gene regulation.  The molecular mechanisms that regulate gene expression, especially when focusing on one specific gene such as CRH, has largely remained not fully understood.  Dr. Lekowitz and his colleagues discovered that 'the protein Orthopedia (Otp), which is expressed in the parts of the brain known to be responsible for the stress response, modulated CRH gene expression.'   Here is the part I found interesting part:  Otp regulates CRH gene expression not by well-documented methods such acting as a protein transcription factor or regulating acetylation of the chromosome, but by regulating the production of two different receptors on the neuron's surface which are responsible for the intracellular signaling that controls CRH production.  This discovery that a protein which functions in gene regulation can have such a commanding effect on the phenotype of an individual who might otherwise be normal wild type for the gene in question (CRH) is almost analogous to epistatic effect, and truly something to think about when considering genetics, gene regulation, and Mendellian hereditary patterns.