Microbe Might Provide Key to a Longer Healthier Life for Humans

The organism Caenorhabditis elegans has a simple structure but has genetic similarities to humans. This organism is able to change it's cuticle, a skin-like barrier, in response to infection. The nervous system changes the structure of the cuticle. Originally it was believed that the cuticle and human skin work in similar ways, they are just a barrier to infection, there was no response. This discovery may be able to help human health. The researchers used gene splicing and CRISPR gene editing to show that a G-protein-coupled receptor tied to a gene called NPR-8 regulates collagens. Collagens are proteins that are a key part to the structural component of the cuticle. When the NPR-8 was removed, the organism survived longer when exposed to pathogens. Without the receptor, the cuticle was also smooth instead of wrinkled like the wild type. Pathogens try to destroy the cuticle in order to infect the organism and the results showed that the nervous system was able to change its structure based on an immune response. Collagen loss can cause a lot of issues in humans, so studying this natural regulation of collagen may be beneficial to human health.

It would be very beneficial to people if some type of treatment can be made to help collagen regulation, based on the research done on this organism. Humans have an extracellular matrix on all of their organs that have collagen in them. If there is too much or too little collagen, then problems can arise. It would be very cool to see how this organisms natural process of regulating collagen may help people in the future.

Link: https://www.sciencedaily.com/releases/2019/11/191120144950.htm

Related Article: https://advances.sciencemag.org/content/5/11/eaaw4717

Neanderthals made their own jewelry, new method confirms

Neanderthals are the closest, extinct relatives to modern humans. They are either a species or a sub-species of man who were prevalent before their physical and intellectual development into Homo sapiens. Neanderthals are considered to be the first people to make tools and control fire. A new study shows that Neanderthals made their own jewelry. Archaeologists found bone tools, fossils, and make-shift necklaces in the Grotte du Renne cave in France. Scientists were unable to use DNA to link the Neanderthals to the artifacts, so they used a new method involving proteins to identify the fragments. This method delved into the new and growing field of paleo-proteomics.

Neanderthal fragments found in the Grotte du Renne cave

By examining the proteins, researchers were able to specifically compare the chemical composition of collagen in the artifacts and fossils to the collagen produced by modern people and Neanderthals. Neanderthal collagen contained a different amino acid than modern human collagen. The researchers also sequenced the mitochondrial DNA. Not only did they see that the ancestry was Neanderthal but also they noted that the fragments contained high levels of nitrogen isotopes, associated with breast-feeding. This led the team to conclude that some of the Neanderthals were infants. Through radiocarbon dating, the fragments were able to be chronologically linked with the tools and jewelry found nearby. 

This study demonstrates that Neanderthals had the ability to make their own tools and jewelry, but it also allows for more questions. Modern humans may have possibly had a social and genetic influence on Neanderthals. Through mating and socialization with Homo sapiens, the Neanderthals may have obtained enhanced cognitive abilities. I believe this is a great start to researching if enhanced cognitive skills have a genetic basis. By learning about our past and our history, we can learn more about our present selves and our future. 

Stem Cell Injections for Fetuses with "Brittle Bone" Disease

Many babies have a disease called osteogenesis imperfecta, that causes their bones and skeletons to be very brittle.  Their bones are so fragile that they fracture while in the womb.  Scientists and doctors are now performing stem cell therapy on fetuses in the womb to strengthen the skeletons of these babies before they are born.  Osteogenesis imperfecta is caused by a mutation in the gene that creates collagen--which is a tough, flexible, material that is crucial for bone strength.

Scientists are beginning a trial in Stockholm, Sweden that injects cells containing unmutated collagen copies of genes into 20 week old fetuses that were diagnosed with the brittle-bone disease.  The stem cells being injected into these fetuses come from the livers of terminated fetuses.  The way these stem cells help the fetuses in the womb is that they divide and move into the bone, strengthening and fixing parts of the bone that are fractured.  Stem cells will be more effective being transported into fetuses in their mother's wombs than after they are born because while in the womb, the fetus' immune system has not developed yet; so they are less likely to be rejected.  In born babies, the stem cells have a greater chance of being rejected since their immune systems are developed. A larger trial is being conducted in January with 15 fetuses and 15 babies with the condition.  Comparing the number of fractures in each group after the injection will be able to provide information as to whether early injection is more beneficial or not.

Stem cells are a newer concept in the field of medicine, especially being used in gene therapy for fetuses that lack the gene containing collagen.  They are unspecialized cells and have the ability to become specialized cells, as they do in fetuses with osteogenesis imperfecta.  So, they are essentially cells that "mold" into what the body needs them to be.  I believe this stem cell therapy has a good chance of being accepted by the fetuses, in comparison to babies already born due to the immune system development factor.  Stem cells are now being used in gene therapy, which is an important advancement to medicine and health.  If this trial has positive results in the fetuses after they are born, stem cells will most likely be researched further to use in similar diseases caused from gene mutations in fetuses.

The Genetics of Human Height

In a recent study, data from the genomes of 253,288 people were analyzed by researchers to determine the number of genetic variants and genome regions relating to height.  The height of an individual is estimated to be 80% genetic.  Environmental factors and nutrition are thought to account for the rest.   Based on results, it was determined that there are nearly 700 genetic variants and more than 400 genome regions relating to height.  It is important to note that over 2 million common genetic variants were scrutinized.  Scientists claim that humans on average have become taller over the past few generations because of environmental factors as well as improved nutrition.

  The image above displays the world's tallest man (8'1'') 

with the world's shortest man (2'5'')

Scientists say they study height for two main reasons.  Dr. Joel Hirschhorn, a geneticist and pediatric endocrinologist at Boston's Children's Hospital stated, "For over 100 years, it has been a great model for studying the genetics of diseases like obesity, diabetes, and asthma which are also caused by the combined influence of many genes acting together.  So by understanding how the genetics of height works, we can understand how the genetics of human disease works."  Researchers believe that many genes identified in the study are probably related to skeletal growth.  Several genes were related to collagen, chondroitin sulfate, and growth plates.  The same team of researchers conducted this study in 2010, but by doubling the sample size this time, they were able to double the number of known gene regions that are associated with height.  Researchers believe that knowing genes and their variants that are important in height may help doctors diagnose individuals in the future who have a single major underlying cause.

As an individual who aspires to enter the medical field, I find it fascinating that understanding the genetics of height gives more understanding to how the genetics of human disease works.  The correlation between the two is nothing short of remarkable.  I also find it interesting that by doubling the sample size, scientists were able to double the number of known genome regions relating to height.  This is a huge step forward in not only understanding the genetics of height, but also for understanding the genetics of human disease.           

Article [1]: http://www.businessinsider.com/r-tall-tale-scientists-unravel-the-genetics-of-human-height-2014-10
Related Articles: http://guardianlv.com/2014/10/genetics-study-of-height/
                          https://time.com/3462490/new-genes-found-that-determine-your-height/