Brain Disorders Are Tied to Genetic Mutations

                                                  

     New research was found which may lead to better diagnostics and the care and treatment for different types of diseases that occur during the early development of the brain, such as epilepsy. In the study, around 300 children coming with different types of forms of MCD gave in some brain tissue samples. These samples were collected when these children underwent epilepsy surgery to treat this disease. With each tissue sample, there was also a blood and saliva sample along with samples from the parents. Along with the samples given by the patients and their parents, there were also a small number of outside people that had no brain conditions that also donated their brain tissue for comparison. Comprehensive screening happened in three steps. The first step examined genes in the mTOR pathway. These genes regulate metabolism, cell growth, and show a huge amount of signaling in brains with epilepsy. The second step identified new genes through unbiased gene discovery to associated genes that may be tied with MCD. The third step consisted of testing a new sample independently to confirm the genes tested and identified in the first and second steps. The study came back with 69 mutated genes tied with MCD for the first time. Twelve of these mutated genes were mutated repeatedly which means that they were found in two different brain samples. The study confirmed that the mTOR pathway is a very important pathway to our body and the dysregulation of it can cause human diseases. However, the study concluded that there is much more to research, as it has never fully gone in depth. There may be more identifiable genes in the studies to come. To test mutation functions, the researchers put one of two forms of the MCD genes into the brains of mice, mutated or non-mutated. When mutated genes were introduced into the mice body, there were abnormalities in the brain very similar to the findings that were seen in humans with MCD which means that the mutated genes are very likely to contribute to the disease and they are vital to cortical development.

     This study was very remarkable. There are lots of patients who deserve better care and it must be hard for patients with conditions like epilepsy or any neurological disorder to receive it. This study just proved that there needs to be more in depth studies of many disorders, but it also proved that there is an insight to the origin of these disorders. This is a start to the treatment of many conditions. This also brings hope to people who are diagnosed with these disorders. This research opened a new area of focus, and with more in depth studies, the findings will lead closer to better treatment and diagnostics, and hopefully a cure.

Sources:

https://www.nimh.nih.gov/news/science-news/2023/researchers-unlock-genetic-mutations-contributing-to-disorders-in-the-brain

https://medlineplus.gov/geneticbraindisorders.html

The genes that could one day increase lifespan in humans

     After ten years of research by the Buck Institute for Research on Aging and the University of Washington has identified 238 genes that increase the replicative lifespan of S. cerevisiae yeast cells when removed.  This was the first time 189 of these genes were linked to aging.  The results found could provide new genomic target that could improve human health.

     Dr. Matt Kaeberlein, PhD from the Department of Pathology at the University of Washington and his team began the painstaking process of counting and examining 4700 yeast strains of yeast each with a single gene deletion.  Each strain had the daughter cell and mother cells separated and count to see how many times the mother cell divided. 

     The effort produced the information about how different genes and their pathways modulate aging in yeast. The deletion of gene LOS1, which helps relocate transfer RNA that brings amino acid to ribosomes to build proteins, produced huge results. LOS1 is influenced by a master switch the is associated with caloric restriction and increase lifespan, mTOR; also LOS1 influences another gene Gcn4 that helps govern DNA damage control.
     This research is only part of the process to map the relationship between the gene pathways that govern aging.  A number of these age-extending genes are found in roundworms and humans alike so the deletion of these genes could also prolong the lives of human eventually.  The researchers hope that this research will produce new therapies.
    "Almost half of the genes we found that affect aging are conserved in mammals," said Dr. Kennedy. "In theory, any of these factors could be therapeutic targets to extend healthspan. What we have to do now is figure which ones are amenable to targeting."(1)
      I am a little afraid of this to come true.  I couldn't think about what would happen if more humans were able to extend their lives.  How many people would like to extend their lifespan if they had any of disease or a disability that would affect how they live. Imagine if you were able to live to be over 100 but you happened to lose the use of your legs at later in your life; would you want to live longer if your quality of life starts to decline.

http://www.sciencedaily.com/releases/2015/10/151008142230.htm
http://www.buckinstitute.org/

1. Buck Institute for Research on Aging. "Mapping the genes that increase lifespan: Comprehensive study finds 238 genes that affect aging in yeast cells." ScienceDaily. ScienceDaily, 8 October 2015. <www.sciencedaily.com/releases/2015/10/151008142230.htm>.

Muscle Aging is NOT Improved by Exercise

Medical News Today reports that the professor of Systems Biology in the School of Sport, Exercise, and Health Sciences at Loughborough University recently issued a press statement that overturned a concept that was long held true by the scientific and medical community.

Professor Timmons and her colleagues have observed that physical exercise has very little to no control over how well the muscles age in the human body.  It has been found that genetic pathways have been identified as the largest deciding factor as to how well your muscles actually age.  These processes are completely distinct from the processes that are regulated by physical activity.  In other words, no matter how much you exercise, genetics wins again...  Physical activity has NOT been observed to alter age-related biological changes.

A test trial on endurance took place over a 20 week time period with a group of volunteers.  It was discovered that through a specific pathway known as mTOR, only those select few who can genetically suppress this pathway are able to gain more lean muscle tissue mass with exercise.  For the majority of the people who could not genetically suppress the mTOR pathway, no amount of exercise could stop or slow their muscle aging.