Monday, August 2, 2021

Is Your Athletic Success Determined by Your Genes?

 



        If you want to win a gold medal at the olympics this summer, you don't only need determination and perseverance, you need the key genetic factors influencing the musculature structure needed for your event. Everyone has either one (or a mix) of the three types of muscle fibers: slow twitch, fast twitch 1, or fast twitch 2. Those with slow twitch fibers will perform well in events such as the triathlon, where athletes will be engaging in activity for almost two hours. Whereas those with fast twitch fibers will perform best with events such as weightlifting, where the event is all about short term power. Genetics have a key role in determining those muscle fiber types, as well as other necessary athletic components such as flexibility and muscle mass. Scientists have focused on studying two genes: ACTN3 and ACE. The ACTN3 gene has influence on the production of the protein alpha-actinin-3 found in fast twitch muscle fibers. There is a variant called R57XX where an individual will have shortened alpha-actinin-3 that is broken down quickly. If an individual has a variant in both copies of the gene, they have 577XX where there is an absence of alpha-actinin-3 and those athletes will have much more slow twitch fibers. On the other hand, the ACE gene is related to blood pressure and controlling the production of the protein angiotensin-converting enzyme. If an athlete has a higher level of the DD variant they will end up with more fast twitch fibers. Aside from specific genes, an individual may be more athletic due to their environment. Simply put, an individual who comes from athletic parents will most likely have athletic traits. Could you win a medal just based on your genes? Personally, I think that goal could be achieved!

https://medlineplus.gov/genetics/understanding/traits/athleticperformance/

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3993978/

Sunday, August 1, 2021

Cats: The New Practical Models for Human Genetics?

 

    According to Leslie Lyons, of the Department of Veterinary Medicine and Surgery at the University of Missouri, domestic cats may have the potential to become practical models for human genetics. Domestic cat genes are relatively the same size as human genes, as well as a genome that is both very organized and conserved. Alike to humans, cats are prone to genetic diseases that are related to a dysfunction in their genetic dark matter. Genetic dark matter refers to the approximate 95% of our DNA that is nearly identical throughout the entire animal kingdom. This dark matter has long been seen as extra genetic information with no real purpose, however, recent studies in mice suggest that the DNA dark matter holds essential factors to our development. Due to domestic cat genes having parallel spacing and similar organization in comparison to humans, there may be a greater potential to learn more about Alzheimer’s and blood cancer in mankind. Therapies for genetic diseases such as polycystic kidney disease, which affects both cats and humans, can also be discovered and used to treat humans. Domestic cats also are are more affordable and typically more docile in comparisons for other "lab setting" animals used for genetic discoveries such as monkeys. Overall, cats may be able to get scientists closer to understanding new crucial information pertaining to human disease in comparison to mice and monkeys that are being examined instead. Cats can play a role in developing precision medicine, where instead of finding a cure or treating the symptoms of a genetic disease, scientists can modify and fix the actual gene and what it does.

Helpful Links:


By Katherine Morone

Mouse Bites Are Potentially Venomous Like Snakes

 Mice could someday become venomous, suggests study - Big Think


In this article, the OKINAWA INSTITUTE OF SCIENCE AND TECHNOLOGY (OIST) GRADUATE UNIVERSITY, discusses the origins and molecular make up of venom, and how evidence shows mammal salivary glands and snake venom glands share a common genetic foundation.the team searched for genes that work alongside and interact strongly with the venom genes. The scientists used venom glands collected from the Taiwan habu snake from Asia. Agneesh Barua said, "The role of these genes in the unfolded protein response pathway makes a lot of sense as venoms are complex mixtures of proteins. So to ensure you can manufacture all these proteins, you need a robust system in place to make sure the proteins are folded correctly so they can function effectively.". 

It seemed that other mammals like humans, dogs, and rodents also have their own version of these genes in the same pattern. Due to this, scientists believe this supports the theory that that venom glands evolved from early salivary glands. In a few thousand years we might encounter an evolutionary event where mice and even humans are venomous and this is definitely something worth studying further for the future of our ecosystem and understanding the evolutionary effects in genetics.

Links:

https://scitechdaily.com/startling-new-evidence-shows-a-mouses-bite-holds-venomous-potential/

https://www.sciencedirect.com/topics/pharmacology-toxicology-and-pharmaceutical-science/snake-venom#:~:text=Abstract,venom%20secreted%20by%20oral%20glands. 

New Genetic Comparison Technique Developed At Stanford University Enables Further Study of the Human Brain and Face Evolution

 

            In order for scientists to study human evolution, they often compare the human genome with the genomes of other species. The closeness between the species can be hard to navigate and make it difficult for scientists to define the causes of human evolution and development. A new technique developed at Stanford University allow researchers to better compare the DNA of humans to that of other species. This technique requires fusing human cells with skin cells of the other species that have been modified to act as STEM cells, allowing for the activities of the two cells to be analyzed side by side to learn more about the history and function of human DNA. In one trial, scientists found new genetic differences in the expression of the SSTRI gene that modulates neuron activity in the cerebral cortex. This discovery can help better understand diseases like Alzheimer's and Schizophrenia. In another trial of this new technique showed differences between the EVC2 gene in chimpanzees and humans, which gives clues about how the human face evolved. Researchers at Stanford University are specifically interested in how the levels of cis-regulatory elements that affect the expression of nearby genes in humans compares to the levels of cis-regulatory elements in other animals. One hurdle encountered during these experiments were any potential differences in the development between the two compared species. This difficulty was combatted by housing the DNA of the two compared animals in the same nucleus.                                                                             The Human-Chimpanzee comparison experiment showed which gene expression pathways are more active in one species then the other. Since chimpanzees and humans are evolutionarily related, these comparisons can give us an insight into just how humans evolved. The new DNA comparison technique from Stanford University not only allows for evolution tracing within humans but can also help us to better understand the way neurological and genetic diseases function and are passed on.

Article Link: https://news.stanford.edu/2021/03/17/new-technique-reveals-genes-underlying-human-evolution/

Related Link: https://news.stanford.edu/news/2015/november/trace-invention-tools-112315.html

      

Genetic Risks of Inbreeding


    In our society today the term "inbreeding" is typically only used when it pertains to animals. For example, a dog having blue eyes is a recessive trait to the dominant brown eyes. The most efficient way to reproduce a generation of dog offspring with blue eyes is breed a male and female dog that carry the blue eyed phenotype, meaning they are homozygous recessive for it. As illustrated in the flow chart, it is possible for an offspring to inherit the homozygous recessive trait from parents who do not physically show it. These are the risks that are posed when inbreeding occurs amongst humans. Hypothetically, imagine the recessive trait in this instance was a chronic auto-immune disease, skeletal abnormality, or chronic genetic disorder. According to a study done in 2011, inbreeding practically doubles a person's susceptibility to inheriting a genetic disorder. If a person were to mate with someone outside of their family gene pool, if they do not carry the recessive trait for the unfavorable disease the offspring can resist being born with that phenotype. 


    There are many undesirable traits that put an offspring at risk when inbreeding. The offspring is susceptible to reduced fertility, birth rate, and immune function. They also have increased risk of cardiovascular disease, facial asymmetry, and risk of genetic disorders. The rates of child mortality is higher, and the growth of the human body as an adult is smaller. The most common genetic disorders that inbreed offspring face are schizophrenia, limb malformation, blindness, congenital heart disease, and neonatal diabetes. 


Link: https://www.thoughtco.com/inbreeding-definition-effects-4171861

Link: https://www.bbcearth.com/news/what-are-the-effects-of-inbreeding

Untwisting DNA Reveals New Force that Shapes Genomes

 

    Advanced microscope technology has allowed for the tertiary structure of DNA strands to better be understood and allowed for scientists to visualize how the genome organizes into these 3D structures. This new machinery uses high power lasers alongside chemical conditions that track fluorescent molecules to provide 10 times higher resolution than conventional microscopy. Prior to this new microscope technology it was not possible to analyze the tertiary structures of DNA closely. The new microscopes helped scientists draw correlations between the specific way DNA is transcribed and how it supercoils to form tertiary structures. Transcription was found to generate a force that moves across DNA strands like ripples through water. This is due to structural proteins known as cohesions that "surf" across DNA strands changing the shape of the genome in the process. Researchers believe that the discovery of the way cohesions affect the structure of DNA can help understand more about genetic and developmental disorders as it may be possible to draw correlations between diseases and tertiary structure folds. As DNA is condensed within a cell it forms many loops and coils which cause different sections of the DNA to interact with one another, allowing for individual cells to switch different information on and off. This new advancement shows that transcription aids in the process of determining which parts of the DNA fold to interact with each other. Until recently scientists were only able to predict where tertiary DNA loops were located but not their shape or what caused the coiling to form. The possibilities for this advanced form of microscopy are still being discovered.

Article Link: https://www.sciencedaily.com/releases/2021/07/210722113007.htm

Related Link:   https://www.ncbi.nlm.nih.gov/books/NBK26880/

 

Saturday, July 31, 2021

Alzheimer's: Development and Degenerating Neurons

 Alzheimer's Disease | Definition, Causes, Diagnosis & Treatment


Alzheimer's is a very complex and heartbreaking disease, with no great understanding of how it develops or how to cure it, causing no forms of any type of treatment. Scientists at the Salk Institute decided to grow neurons that resemble brain cells in older patients, and it shows that they start to lose their identity. They are shown to be markers of stress, and tend to resemble cancer cells which is also linked to aging. 

In the study they conducted comparing skin cells with Alzheimer's affected patients, they discovered that the Alzheimer's cells had a lack of synaptic structures, which are important for sending signals to each other. They also had changes in their signaling pathways, which control cell function, indicating that the cells were stressed. Additionally, they found the Alzheimer's neurons had very similar molecular signatures to immature nerve cells found in the developing brain, meaning they lose their mature identity. 

Hopefully with these new insights and further research, there can be a new therapeutic treatment for Alzheimer's patients. This could substantially change the path for the patient and for their families when dealing with this life-changing disease.


Links:

https://www.sciencedaily.com/releases/2021/04/210427113813.htm

https://www.alz.org/alzheimers-dementia/what-is-alzheimers

Stanford Device Allows for Thousands of DNA Enzyme Experiments To Be Performed At the Same Time

    Enzymes have the power to catalyze the formation of many types of genetic materials. Scientists often use enzymes to speed up their experiments and synthesize desired materials quickly. One of the problems scientists encounter when using enzymes in experiments is that they often need to perform multiple enzyme reactions at a time, a process that can be time consuming and tedious. Scientists at Stanford university have recently created a machine that is able to run thousands of DNA enzyme experiments at once. This machine is called HT-MEK , standing for High-Throughput Microfluidic Enzyme Kinetic. Researchers claim that the HT-MEK machine can condense years of work into a few weeks. Before this new machine scientists where forced to only be able to observe the small active site of the DNA enzyme. Since the HT-MEK machine allows for multiple enzyme reactions to occur at once it allows for scientists to see how all locations on the DNA enzyme interact with one another and not just the active site. HT-MEK helps piece together how DNA enzymes work. Intentional mistakes were inserted into the DNA blueprint of an enzyme that passed through the HT-MEK machine so that scientists were able to see how the mistake affects catalysis. This process without the HT-MEK machine would be very time consuming and expensive. The HT-MEK machine simplifies the process by allowing for the multiple enzyme reactions to occur at the same time which not only saves time but also makes it easier to see how the parts of the enzyme work together during catalysis. 
      The implications and uses of the HT-MEK machine are still being discovered. Scientists predict that this new machine will help make many scientific processes more eco-friendly as the current industrial chemicals used in enzyme reactions are not very sustainable. The HT-MEK machine uses less chemicals than traditional enzymatic catalysis experiments. In the medical field this new machine could help rapidly catalyze the formation of products that can be introduced into human DNA to help cure genetic conditions. The creation of the HT-MEK machine opens up a world of possibilities in the Health and Human DNA fields.   

Article Link: https://scitechdaily.com/stanford-device-enables-thousands-of-synthetic-dna-enzyme-experiments-to-run-simultaneously/

Related Link: https://qbi.ucsf.edu/seminar-markin#