Lifeboat Foundation: Safeguarding Humanity
Toggle light / dark theme

Blog

Category: genetics – Page 5

Scientists from Mass General Brigham and Beth Israel Deaconess Medical Center have developed a novel gene editing tool called STITCHR. Unlike traditional CRISPR, STITCHR inserts entire genes at precise locations, minimizing unintended mutations. This gene editing tool simplifies use and offers potential as a one-time treatment for genetic disorders.

The technology uses retrotransposons, naturally occurring “jumping genes” found in all eukaryotic organisms, which can move and integrate into genomes. Using computational screening, the researchers identified and reprogrammed a specific retrotransposon to work with the nickase enzyme from CRISPR, forming the complete STITCHR system that allows a precise, seamless gene insertion into the genome.

STITCHR offers the potential to replace or supplement entire genes, creating a more universal treatment option for various genetic diseases. The research team is now working to improve its efficiency and move it toward clinical use. Their study, published in Nature, highlights how insights from basic cellular biology can drive innovation in genetic medicine and lead to new therapeutic tools.

Read more | >

A new study has unveiled when chronic myeloid leukaemia, a type of cancer that affects the blood and bone marrow, arises in life and how fast it grows. Researchers reveal explosive growth rates of cancerous cells years before diagnosis and variation in these rates of growth between patients. Such rapid growth rates had previously not been observed in most other cancers.

Researchers used whole genome sequencing to study when BCR::ABL1 – an abnormal fusion of the different genes called BCR and ABL1, which is known to cause chronic myeloid leukaemia. The team investigated when BCR::ABL1 first arises in a blood cell and how quickly these cells with this genetic change then multiply and expand to lead to a diagnosis of a type of leukaemia.

The research, published in Nature, contributes to the scientific understanding of how strong this abnormal fusion gene is in its ability to drive cancer.

Read more | >

A new study from Weill Cornell Medicine provides insights into how cells maintain the tiny end caps of chromosomes as they divide, a key process in keeping cells healthy. Using yeast, the researchers reveal protein interactions that could explain how the enzyme telomerase is tightly regulated to prevent cells from dividing uncontrollably or aging prematurely.

The preclinical study, published April 17 in Nucleic Acids Research, brings us closer to understanding the mechanisms behind aging and cancer.

Before cells divide, they replicate the double-stranded DNA of each chromosome. The does a good job of copying the nucleotide sequences until it gets to the telomeres, the end caps of chromosomes that safeguard the genetic material from damage and normally shorten with aging. That’s when telomerase steps in and produces an overhang in which one DNA strand is a little longer than the other.

Read more | >

An international collaboration between four scientists from Mainz, Valencia, Madrid, and Zurich has published new research in the Proceedings of the National Academy of Sciences, shedding light on the most significant increase in complexity in the history of life’s evolution on Earth: the origin of the eukaryotic cell.

While the endosymbiotic theory is widely accepted, the billions of years that have passed since the fusion of an archaea and a bacteria have resulted in a lack of evolutionary intermediates in the phylogenetic tree until the emergence of the eukaryotic cell. It is a gap in our knowledge, referred to as the black hole at the heart of biology.

“The new study is a blend of theoretical and observational approaches that quantitatively understands how the genetic architecture of life was transformed to allow such an increase in complexity,” stated Dr. Enrique M. Muro, representative of Johannes Gutenberg University Mainz (JGU) in this project.

Read more | >

In the heart of Canada’s Rocky Mountains, an unassuming yet remarkable butterfly has been quietly flying under our scientific radar for years. With a wingspan of an inch to an inch and a half, and wings that are brown on top and grayish brown with black spots below, this population was long thought to belong to the Half-moon Hairstreak (Satyrium semiluna). However, the isolated hairstreak butterflies of Blakiston Fan in Waterton Lakes National Park, Alberta, have now been recognized as a distinct species: Satyrium curiosolus, or the Curiously Isolated Hairstreak.

A recent study by an international collaborative team, published in ZooKeys, uncovered the unique evolutionary history of this population. The results were striking: Satyrium curiosolus has been completely isolated from its closest relatives for quite a while—possibly up to 40,000 years—becoming more and more genetically and ecologically unique along the way.

Read more | >

Northwestern Medicine investigators have discovered how disruptions in the circadian rhythm in our muscles combined with poor diet can contribute to the development of diabetes, according to a recent study published in Proceedings of the National Academy of Sciences.

“When we mess up our through environmental circadian disruption like , jet lag or , it’s possible that it’s impacting our muscle clocks and metabolism. If that’s happening and we are combining this with an unhealthy diet, this might make it more likely for us to develop glucose intolerance and diabetes,” said Clara Peek, Ph.D., assistant professor of Biochemistry and Molecular Genetics and of Medicine in the Division of Endocrinology, Metabolism and Molecular Medicine, who was senior author of the study.

The body’s natural is comprised of proteins called that are present throughout the body, including . The clock synchronizes physical and behavioral changes to the external environment during the 24-hour light cycle.

Read more | >

Alpha-1-antitrypsin is a so-called protease inhibitor, a type of enzyme inhibitor. It is produced in the liver but exerts its effects in the lungs, where it regulates immune cell activity. This regulation is crucial, and an overactive immune response can cause serious lung diseases.

However, some individuals carry a genetic mutation that causes the alpha-1 protein to fold incorrectly. As a result, too little functional alpha-1 is produced, and insufficient amounts reach the lungs.

The mutation is inherited from one or both parents. About 1 in 20 people in Europe carry the heterozygous form of the mutation—inherited from only one parent—and often experience no symptoms or only mild ones. In contrast, the rarer homozygous form, inherited from both parents, affects approximately 1 in 2000 individuals and is much more severe.

Read more | >

Both the injectable and oral forms of semaglutide, a glucagon-like peptide-1 (GLP-1) receptor agonist, have recently gained attention for their effectiveness in managing weight gain, high blood sugar, and even reducing alcohol cravings.

A new clinical trial, co-led by endocrinologist and diabetes specialist John Buse, MD, PhD, and interventional cardiologist Matthew Cavender, MD, MPH, at the UNC School of Medicine, has demonstrated that the oral form of semaglutide significantly lowers the risk of cardiovascular events in individuals with type 2 diabetes, atherosclerotic cardiovascular disease.

Cardiovascular disease (CVD) encompasses a range of disorders affecting the heart and blood vessels, including coronary artery disease, heart attack, stroke, and hypertension. These conditions are primarily driven by atherosclerosis, a process where plaque builds up in the arterial walls, leading to narrowed or blocked arteries. Risk factors include smoking, unhealthy diet, lack of exercise, obesity, and genetic predisposition. CVD remains a leading cause of global mortality, emphasizing the importance of lifestyle changes, medical interventions, and preventive measures in managing and reducing the risk of heart-related illnesses.

Read more | >

The precise nature of the engram, the physical substrate of memory, remains uncertain. Here, it is reported that RNA extracted from the central nervous system of Aplysia given long-term sensitization (LTS) training induced sensitization when injected into untrained animals; furthermore, the RNA-induced sensitization, like training-induced sensitization, required DNA methylation. In cellular experiments, treatment with RNA extracted from trained animals was found to increase excitability in sensory neurons, but not in motor neurons, dissociated from naïve animals. Thus, the behavioral, and a subset of the cellular, modifications characteristic of a form of nonassociative long-term memory (LTM) in Aplysia can be transferred by RNA. These results indicate that RNA is sufficient to generate an engram for LTS in Aplysia and are consistent with the hypothesis that RNA-induced epigenetic changes underlie memory storage in Aplysia.

Read more | >