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Category: genetics – Page 53

Curious isolation: New butterfly species discovered

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.

Study identifies link between body clock disruption and metabolic disease

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.

Alpha-1 antitrypsin deficiency: Study reveals why some patients with the hereditary disease remain healthy

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.

New Pill Form of Semaglutide Shows Major Benefits for People With Diabetes

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.

RNA from Trained Aplysia Can Induce an Epigenetic Engram for Long-Term Sensitization in Untrained Aplysia

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.

Golden eyes: How gold nanoparticles may one day help to restore people’s vision

A new study by Brown University researchers suggests that gold nanoparticles—microscopic bits of gold thousands of times thinner than a human hair—might one day be used to help restore vision in people with macular degeneration and other retinal disorders.

In a study published in the journal ACS Nano, the research team showed that nanoparticles injected into the retina can successfully stimulate the visual system and restore vision in mice with retinal disorders. The findings suggest that a new type of visual prosthesis system in which nanoparticles, used in combination with a small laser device worn in a pair of glasses or goggles, might one day help people with retinal disorders to see again.

“This is a new type of retinal prosthesis that has the potential to restore vision lost to without requiring any kind of complicated surgery or ,” said Jiarui Nie, a postdoctoral researcher at the National Institutes of Health who led the research while completing her Ph.D. at Brown. “We believe this technique could potentially transform treatment paradigms for retinal degenerative conditions.”

Unraveling the Complexities of Premature Aging: Mechanisms and Interventions

Driven by genetic and environmental factors, aging is a physiological process responsible for age-related degenerative changes in the body, cognitive decline, and impaired overall wellbeing. Notably, premature aging as well as the emergence of progeroid syndromes have posed concerns regarding chronic health conditions and comorbidities in the aging population. Accelerated telomere attrition is also implicated in metabolic dysfunction and the development of metabolic disorders. Impaired metabolic homeostasis arises secondary to age-related increases in the synthesis of free radicals, decreased oxidative capacity, impaired antioxidant defense, and disrupted energy metabolism. In particular, several cellular and molecular mechanisms of aging have been identified to decipher the influence of premature aging on metabolic diseases. These include defective DNA repair, telomere attrition, epigenetic alterations, and dysregulation of nutrient-sensing pathways. The role of telomere attrition premature aging in the pathogenesis of metabolic diseases has been largely attributed to pro-inflammatory states that promote telomere shortening, genetic mutations in the telomerase reverse transcriptase, epigenetic alteration, oxidative stress, and mitochondrial dysfunctions. Nonetheless, the therapeutic interventions focus on restoring the length of telomeres and may include treatment approaches to restore telomerase enzyme activity, promote alternative lengthening of telomeres, counter oxidative stress, and decrease the concentration of pro-inflammatory cytokines. Given the significance and robust potential of delaying telomere attrition in age-related metabolic diseases, this review aimed to explore the molecular and cellular mechanisms of aging underlying premature telomere attrition and metabolic diseases, assimilating evidence from both human and animal studies.

Aging is defined as a physiological phenomenon driven by genetic and biological processes, which are related to the lifespan of an individual and are associated with all age-related pathologies (Li et al., 2021). The aging process increases the susceptibility of individuals to factors leading to death as they grow older. Aging is a complex multifactorial phenomenon that involves the simultaneous interaction between various factors at different levels of functional organization. The role of genetic and environmental factors is represented by the heterogenous aging phenotype across different individuals, hence, these factors influence the lifespan of an individual via the process of aging (Jayanthi et al., 2010). With the deterioration of physiological functions critical to the survival and fertility of humans, the process of aging is known to relate to the notion of natural selection (Gilbert, 2000).

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