Thursday, December 12, 2019

Epigenome Editing to Prevent Neurological Disorders

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Genome editing is a controversial subject to say the least. Not only are there various ethical questions to consider when editing an individual's genome, but in many cases the long-term effects of gene editing are unknown. However, few can deny the power of gene editing when it can be used to reverse, and perhaps even eradicate, various diseases. One research team from John's Hopkins is researching how epigenome editing- a way of editing genes without actually altering DNA- can be used to help treat neurological diseases.

The gene this team is targeting is C11orf46. Mutations of this gene lead to the development of WAGR syndrome, which results in intellectual delays and other health problems. The mutations typically culprit to this disease are deletion mutations. So, to study the effect these mutations have on an individual, the researched "silenced" the gene in mice via epigenetic techniques. This means instead of altering the DNA, they altered the chromatin packing the DNA is wrapped in to make this gene harder to access.

By silencing the gene, researchers were able to identify a higher expression of the semaphorin 6A protein. The researchers then used more epigenetic techniques to reduce the expression of this protein, resulting in an increased health in the mice.

This research could lead to incredible advances in finding cures for various neurological diseases. Additionally, the fact that none of the DNA sequences are actually altered would reduce the amount unforeseen long-term effects and make this method more favorable to the general population.

Related Article (Information on Epigenome Editing):

Genetic Estimation of Lifespan of Vertebrates

Genetics can now predict the length of the lifespan of vertebrates. This includes species that are long extinct. The team analyzed genomes of species with known lifespans.. From this they identified 42 genes that can be used to predict lifespan. The method screens the 42 genes for CpG sites which are short regions of DNA whose density is related to longevity. These sites regulate gene expression and control aging. However, aging can also be affected by environmental factors.
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CpG sites in a genome (green)

DNA methylation can also drive aging to occur by adding methyl groups to the DNA moleculeThis declines the predictability of the CpG sites. These patterns were taken into account in the model. Stil this model most likely overestimates the lifespan of animals in the wild as environmental factors most likely end their lives before their genetics will. When this model was used to predict human lifespan, the results came to 120 years, much higher than the average of 86. Therefore, the human data were excluded from the study.This model is most useful for conservation studies.
I think this could be a useful tool to help scientists involved in conservation efforts or those attempting to help endangered species as it gives them more information about the life of the species they are working with. Obviously, there are some drawbacks as the model is not accurate for all species.

World's Largest Family Tree!

At-home genetic testing kits like AncestryDNA and 23andMe have become increasingly popular. is another heritage mapping company with over 130 million family tree connections worldwide.  Using these profiles, researchers were able to link 13 million people, possibly creating the world’s largest family tree.  How creepy is that?!

How Height Happens:

Height is all about the length of our bones. Many factors contribute to the height such as hormones and nutrition. Among the factors, there is also genetics. Harvard University researchers conducted functional tests and identified hundreds of genetic "switches" that influence height and demonstrated how one switch alters the function of a gene involved in the difference of height. The study involved 250,000 people and resulted in the finding of about 700 genetic regions associated with height. As each genetic region could contain tens of thousands of DNA variants, all linked together, the researchers narrowed the focus to the variants associated with cartilage growth plates of bones. This narrowed to 60,000 genetic variant switches in the DNA that caused nearby genes to turn on or off in the femurs of developing mice. Of those 60,000, 900 genetic variants were filtered that were involved in bone and cartilage development, and 83 new genetic variations in the human height.

I think studying height is meaningful to understand how many genes work together to influence height and more traits (epistasis). Studies of such can provide a better insight into the evolutionary dynamics of complex genetic systems. I think studying genetic variation will contribute much to personalized medicine in the future because much will be known about how genes function in the body. More studies on identifying similar genetic variations that may influence the risk of developing common diseases such as schizophrenia, cancer, diabetes, and cardiovascular disease are in progress.

Article Publication: December 5, 2017, by Harvard University
Article Link:
Related Article:

New targeted therapy for anxiety and depression

It has been understood for a while now that genetics plays a huge part in patients with depression and anxiety. Most people are predisposed to the conditions because of the genetics passed down from their parents: if your dad suffers from depression and/or anxiety, you would be more likely to also struggle with the conditions at some point in your life. Current studies aren't denying the fact that genetics play a role, but suggesting that other epigenetic factors are necessary to see the effects of these conditions in people who are predisposed.

The above graphic was pulled from the second article, The CRF system, stress, depression and anxiety—insights from human genetic studies. The graphic outlines one of the most significant pathways that are affected in people with anxiety, depression, and various other mental illnesses. The main focus of this pathway is the corticotropin releasing factor (CRF), which regulates the hypothalamic-pituitary-adrenal axis (HPA axis). The adrenal glands in the body control stress response, most commonly the fight or flight response. Since CRF plays such a key role in the activation or inhibition of the HPA axis, researchers are beginning to look into targeted therapy that can regulate CRF. If CRF is regulated, the HPA axis would be regulated - meaning anxiety and depression responses would be able to be controlled and mitigated.

Since genetics predisposes people to anxiety and depression, and social interactions can shape or alter the DNA, some people may have an enhanced risk of developing these illnesses. For example, someone who has been traumatized by sexual assault and who is genetically predisposed to depression and anxiety will be extremely likely to develop and experience depression and anxiety. On the contrary, someone who is not genetically predisposed but was not lovingly nurtured by their parent growing up still may be likely to develop and experience anxiety and depression because their experience may alter their DNA and how it is expressed which may affect neural links in the brain.

I think the possibility of targeted drug therapies for depression and anxiety are something of the near future. If the HPA axis is the main player in many of the mental illnesses, it may be possible to stop the onset of symptoms in at-risk patients before they even begin, allowing people to live a normal life. If the HPA axis and CRF is a big factor in other mental illnesses like schizophrenia, a drug that targets CRF may be the key to finding a cure for these ailments and since it would be targeted therapy, there is the possibility of little to no side effects. I definitely think this topic deserves more research since there is the possibility of giving patients a whole new life, no matter what their age, so they can have an overall better quality of life.

Article links:

The New Genetics of Mental Illness:

The CRF system, stress, depression and anxiety - insights from human genetic studies:

Wednesday, December 11, 2019

Artificial Cells Are Now Able to Mimic Natural Cell Movement

Synthetic cells are used in laboratory settings but don't have all the characteristics of living cells, limiting research. Cell motility was hard to research due to surface enzyme activity, but a new method was discovered that allowed the synthetic cell to actively move. They investigated how ATPase can propel the protocells. ATPase is an enzyme that converts ATP into ADP. In this experiment, the protocells had artificial membranes composed of phosphatidylcholine and the ATPase enzymes were incorporated directly into the membrane. This discovery allows for the first step to be made for other researchers to make artificial cells with enzymatic activity. Research showed that movement for the cells was low for low amounts of ATP but movement also dropped for too much ATP, which was surprising. The researchers concluded that a high ATP concentration would bind to the ATPase and suppress ATP activity and lowering motility. This research allows for new opportunities to understand more about the mechanisms of movements for cells. This will have a huge role on new medical research.

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I feel like we always think that science as come so far and that there isn't much else to discover, but this just shows how much we still don't understand. Just trying to replicate a living cell is so complicated and we're finally one step closer to making them act more like natural cells. It's amazing how new discoveries like this are able to open up even more doors. Hopefully this research will help with new medical breakthroughs in the future.


Related Link:

Fox Domestication

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While a little old the research paper on the domestication of foxes is still quite important. The research project has been breeding foxes based on whether or not they have traits that can be seen as friendly in an attempt to domesticate foxes. The main goal was to see how an animal could be properly domesticated and if there were particular genes related to domestication in animals. After breeding many generations of foxes they managed to get generations that can be seen as domesticated, but that can be a bit subjective I guess. The foxes are kinda comfortable around people and will walk up to them briefly, but they are nowhere near dogs in terms of emotional attachment. Really the foxes are like very emotionally distant cats rather than a dog. And since they are domesticated, there are research groups in many countries trying to further the project by sequencing genomes in an attempt to see if genes have any bearing on it. Last update the project gave showed around 30 potential genes they were looking into and it seemed promising so far.

I have been following this project for a while so I do think it is extremely interesting and important in many ways.The applications of this research only bring up mental images of people just domesticating random animals, but it is quite a bit more important that than. Finding a genetic link to behaviors could really open up a lot of doors into potential uses in therapy. Potential cures to disorders could be found and the fact that this is being brought up shows where science is going in the near future.


DNA Profile is Private? A Florida Judge Just Said Otherwise
Genetic profiles have always been private for everyone but a judge in Florida is about to change that. A detective from Florida requested a warrant to go into and see GEDmatch database that has nearly one million users. This is the first time a judge has arepoved a warrant like this and doing so can bring complications on genetic privacy. The judge allowing this warrant is giving other agencies ideas to request for search warrants on other DNA sites. This means no one’s genetic profile will be safe and their information could be used by anyone.