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Category: genetics

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.

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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.

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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.

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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.”

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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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Recent advancements in in-vitro gametogenesis (IVG) suggest that lab-grown eggs and sperm could become viable within the next decade. This technology holds the promise of revolutionizing fertility treatments, particularly for individuals facing infertility and same-sex couples desiring biological children. However, it also raises significant ethical and medical considerations that must be carefully addressed.

The Human Fertilisation and Embryology Authority (HFEA), the UK’s fertility regulator, has reported that the development of lab-grown gametes, known as in-vitro gametogenesis (IVG), may become a practical option within the next decade. This technology involves creating eggs and sperm from reprogrammed skin or stem cells, potentially transforming fertility treatments by removing age-related barriers and enabling same-sex couples to have biological children.

IVG represents a significant advancement in reproductive science. By generating gametes in the laboratory, scientists can overcome challenges associated with traditional fertility treatments. This approach could provide new avenues for individuals with infertility issues and offer same-sex couples the opportunity to have children genetically related to both partners.

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Researchers at the University of Cologne and University Hospital Cologne have determined that the novel mRNA-based COVID-19 vaccines not only induce acquired immune responses such as antibody production, but also cause persistent epigenetic changes in innate immune cells.

The study, “Persistent epigenetic memory of SARS-CoV-2 mRNA vaccination in monocyte-derived macrophages,” led by Professor Dr. Jan Rybniker, who heads the Division of Infectious Diseases at University Hospital Cologne and is a principal investigator at the Center for Molecular Medicine Cologne (CMMC), and Dr. Robert Hänsel-Hertsch, principal investigator at the CMMC, was published in Molecular Systems Biology.

The immune system comprises two immunity strategies: the innate and the acquired (adaptive) immune system. The innate immune system provides general protection from pathogens and must react quickly. The adaptive immune system adapts to new pathogens and is highly specific in its response. Both systems work closely together.

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