Discovery of Mouse Genes Related to Heart Rate and Blood Pressure

In a recent study examining blood pressure and heart rate, researchers may have identified a genetic component.

It is a well known fact that both resting heart rate and blood pressure both have a significant effect on cardiovascular health. Unfortunately, while both factors have a relatively high heritability, the genes influencing their rates are difficult to locate. The key? ENU germline mutagenesis.

In this study, researchers utilized N-ethyl-N-nitrosurea (ENU) mutagenesis to create rapid mutations in the reproductive cells of mice. This was paired with meiotic mapping to find loci with genes that code for heart rate. After testing over 40,000 mice, 87 systolic blood pressure genes and 144 HR genes were found.

This research is important because of how deadly heart disease can be. By analyzing genes affecting heart rate and blood pressure in mice, medical researchers may get a better idea of preventative measures for human heart disease in the future.

Sources:

https://www.science.org/doi/10.1126/sciadv.adj9797

https://pubmed.ncbi.nlm.nih.gov/10221322/

Using Bioinformatics to Investigate Keloid

 

Image: Jiao H, Zhang T, Fan J, and Xiao R (2017). Keloid Dermis at Different Depths.


A recent study investigated the biological mechanisms behind keloid formation and may help lead to improved methods for preventing and treating the condition. Keloids are a type of fibrotic skin disorder caused by excessive growth of scar tissue, often resulting in raised scars, pain, and limited movement. Although keloids are common, the exact causes of their development are still not fully understood. Current treatment options are also limited in effectiveness.

Researchers used data from the Gene Expression Omnibus (GEO) database to identify genes that are expressed differently in keloid tissue compared to normal tissue. Bioinformatics analyses were performed to examine gene enrichment patterns as well as cell and tissue specific expression.

The analysis identified the gene Homeobox D8 (HOXD8) as a major contributor to keloid development. HOXD8 expression was found to be approximately two times higher in keloid tissues than in normal tissues. When researchers suppressed HOXD8 activity, the growth of keloid fibroblasts was significantly reduced, while cell death increased. These effects were also linked to changes in the Wnt/β-catenin signaling pathway.

Overall, the study suggests that HOXD8 plays an important role in promoting keloid formation through its effects on signaling pathways in keloid fibroblasts. These findings provide new insight into the molecular basis of keloid disease and indicate that HOXD8 could serve as a promising target for future therapies.


link:
https://www.sciencedirect.com/science/article/pii/S1687850726002268


additional:
https://www.frontiersin.org/journals/physiology/articles/10.3389/fphys.2017.00885/full

Human Evolution is Accelerating

Carmine Martino

BIOL-2110-001

Dr. Guy Barbato

May 5th, 2026 

        A large ancient DNA study found that natural selection has played a much bigger role in recent human evolution than previously thought. By analyzing nearly 16,000 ancient genomes, the data showed that natural selection has affected hundreds of genes in people from West Eurasia over the past 10,000 years.

        Earlier studies had only identified a small number of genes influenced by natural selection, but this research showed that the number is much higher. In total, hundreds of genetic variants were identified as having been shaped by natural selection, which suggests that human evolution has been more active and widespread in recent history than scientists originally believed. Many of the genes identified are linked to disease risk and other traits seen in people today. However, it is not always clear why these genetic variants were beneficial in the past, even though they have become more common over time. The findings also show that natural selection has continued throughout recent human history and has not slowed down. This suggests that human evolution is still ongoing and that genetic changes have continued even after major lifestyle changes such as the development of agriculture.

        This study highlights how powerful ancient DNA research has become and how it can be used to better understand how human genetics have changed over time. It also shows that many traits seen in people today may have been shaped by natural selection in ways that are still not fully understood.

Article:

https://hms.harvard.edu/news/massive-ancient-dna-study-reveals-natural-selection-has-accelerated-recent-human-evolution

Extra Source: 

https://www.nhm.ac.uk/discover/what-is-natural-selection.html

Improving the Quality of Life in Progressive Supranuclear Palsy

 Therapeutic targets to enhance the livelihood of those diagnosed with Progressive Supranuclear Palsy.

Figure: In a 2014 MRI scan of a patient diagnosed with Progressive Supranuclear Palsy, the "hummingbird sign" is present, imitating how a stroke would present on this type of scan.

    Progressive Supranuclear Palsy (PSP) is a neurodegenerative disease that affects one's walking, balance, body movements, and eye movements over time, a type of atypical Parkinsonism. The onset of this disease is typically in their late 60s, eventually leading to complications of pneumonia, choking, and head injuries from falls. There is no current treatment that effectively slows or stops the progression of this disease. 

    However, new research coming out of the University of Florida has promising potential. This team found that toxic buildup of protein tau is a primary molecular mechanism of this disease. Using CRISPR gene-editing technology, the team suppressed PERK-B, a variant associated with the PSP disease. By doing this, the researchers found differences in four proteins, reducing DLX-1 and protein tau levels. These findings could eventually be useful in developing gene therapies for the disease to alleviate symptoms.

Sources:

https://www.jneurosci.org/content/46/13/e1727252026

https://www.ninds.nih.gov/health-information/disorders/progressive-supranuclear-palsy-psp

https://mbi.ufl.edu/2026/02/23/new-study-reveals-potential-targets-to-treat-progressive-supranuclear-palsy/

New Human Gene Cluster Discovery Sheds Light on “Genetic Dark Matter”

                            

    Scientists led by Ali Shilatifard have discovered a new repeat gene cluster in the human genome that is unique to humans and other primates. Published in Science Advances, the study reveals a previously hidden region of DNA that could reshape how we understand gene regulation and evolution.

    The newly identified cluster produces a protein called ELOA3, related to transcription machinery that controls how genes are expressed. Unlike typical genes, which appear once or in small numbers, this cluster contains multiple repeated copies of the same gene located together. Interestingly, the number of copies varies widely between individuals, adding another layer of genetic diversity.

    For years, large portions of the genome made up of repetitive DNA were considered “genetic dark matter” because older sequencing methods couldn’t properly analyze them. With newer long-read sequencing technologies, researchers can now explore these regions and uncover their biological significance. The team found that ELOA3 plays a role in regulating RNA polymerase II transcription, but through distinct mechanisms compared to related proteins. This suggests the gene cluster may contribute to subtle differences in gene expression between individuals and across primate species.

    Beyond basic genetics, this discovery has important implications. Because gene regulation is tightly linked to diseases like cancer, understanding how ELOA3 works could eventually support targeted drug development. It may also help explain aspects of human evolution, since the gene cluster appears conserved across primates but varies in copy number.

Article Link: https://news.feinberg.northwestern.edu/2023/11/22/new-human-gene-cluster-sequence-discovered/

Additional Resource: https://www.science.org/doi/10.1126/sciadv.adj1261

Breakthrough Treatment for High-Cholesterol

 A new gene therapy treatment inhibiting the protein PCSK9 for the treatment of hypercholesterolemia.

Figure: This drug aims to inhibit a protein that increases the risk of heart disease by damaging arteries.

    Previously, high cholesterol has been treated with statin medications, causing side effects of muscle weakness, increased blood sugar, and gastrointestinal issues. Recently, targeting the development of PCSK9 proteins has become increasing more prevalent. PCSK9 proteins cause harm by attaching themselves to LDL receptors and inhibit these proteins from removing excess cholesterol, eventually causing the buildup of LDL cholesterol.

    The University of Barcelona has developed a new method of treating hypercholesterolemia with gene therapy. By utilizing polypurine hairpins, short molecules of DNA that bind to specific molecules, specific sites coding for PCSK9 are targeted and blocked from transcription. The subsequent increase in LDL receptors allows the body to pull cholesterol out of the blood stream and reduce plaque formation in the arteries. This new treatment is a safer way to regulate high cholesterol and risk of heart disease.

Sources:

https://www.sciencedaily.com/releases/2026/05/260501013525.htm

https://www.sciencedirect.com/science/article/pii/S0006295225002382?via%3Dihub

Sienna Fedoruk Regeneration of Limbs

 7. Regeneration of Limbs (Sienna Fedoruk) 

Regeneration is an animals ability to replace damaged or lost body parts without having scar tissue damage in which stem cells play a pivotal role.  In a study done by Nature Communications in January 22 researcher, Igor Schneider, examined regeneration in an animal capable of fin regrowth. He compared this fish to axolotl and zebra-fish to find all three animals initiate the process of regeneration very similarly. He saw that immune cells respond to the injury first and reduce inflammation, then the cells "switch" to low-oxygen mode to fuel regrowth while the RBC regulate healing. Finally genes involving limb formation and DNA repair are triggered and activated which allows for no scare tissue damage. The importance of this study showed how ancient this process is because of how widely these mechanisms are used in prehistoric animals yet lost in humans.  

Other link: https://www.deepseaworld.com/blog/how-do-animals-regenerate-limbs/  

https://www.sciencenews.org/article/regeneration-of-fins-and-limbs-relies-on-a-shared-cellular-playbook   

April 30

Sienna Fedoruk The Genetics Behind Bipolar Disorder

 6. The Genetics Behind Bipolar Disorder (Sienna Fedoruk) 

Bipolar disorder is known as a form of manic depression that includes extreme mood swings. People with this disorder experience extreme highs and the lowest of lows including hypo-mania and depression and these episodes often last for weeks or days at a time. In a study done by the National Institutes of Health researchers got to examine the genetics behind the disorder. They analyzed over 150,000 individuals with bipolar disorder and 2.8 million without from all over the world. "The results revealed an over four-fold increase in the number of genes associated with bipolar disorder, identifying nearly 300 gene locations and 36 unique genes most likely to be linked to the disorder"(NIH 2025). Within these overlaps researchers found that these genes often associate with other mental illnesses such as depression and schizophrenia. Importantly, the findings showed that bipolar disorder has its own distinct genetic patterns which can help with personalized treatments differing in severity to help people with the disorder 

Other link: https://www.mayoclinic.org/diseases-conditions/bipolar-disorder/symptoms-causes/syc-20355955 

https://www.nimh.nih.gov/news/science-updates/2025/study-illuminates-the-genetic-architecture-of-bipolar-disorder   

April 29