Is genetic testing accurate ?

     This article gives its readers insight into a public figure Olivia Munn’s cancer diagnosis. The article starts by stating that before her diagnosis she had gotten genetic testing done in order to rule out many illnesses. Upon further testing from her gynecologist it was discovered that although she had tested negative for getting markers that are commonly associated with breast cancer, she had luminal B. Although her diagnosis was devasting for those around her, her doctors were able to successfully treat her. The article also encourages women to ask their doctors to calculate their breast cancer risk assessment scores.

    I found this article both interesting and insightful. Despite extensive genetic testing women can still test positive for breast cancer. Unfortunately, not all women can access the same level of medical attention. However, this article highlights the importance of routine monitoring. Routine monitoring can lead to early detection as well as more successful treatments.

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Deeper understanding of malaria parasite development unlocks opportunities to block disease spread

Natural malaria infections have undergone more thorough genetic study than in the past, yielding data that might help understand and stop transmission. Using single-cell RNA sequencing, the critical developmental stages of the malaria parasite Plasmodium falciparum are thoroughly characterized. This gives detailed information about the stages of this parasite's life cycle as it develops and changes from an asexual to a sexual state, which is necessary for the parasite to be able to infect mosquitoes. The Malaria Cell Atlas project's recent emphasis on spontaneous infections aligns with the advent of malaria vaccines and the continuous rise in treatment resistance. In addition to generating far more genetically varied parasites than any other method, single-cell RNA sequencing provides us with a window into parasite gene use. Citations: Wellcome Trust Sanger Institute. "Deeper understanding of malaria parasite development unlocks opportunities to block disease spread." ScienceDaily. ScienceDaily, 2 May 2024. .

Is Alcohol linked to genes ?

    This article defines alcoholism as well as describes the reasoning behind it and ways to prevent it. Although alcoholism isn't directly linked to one specific gene. Many genes have been proven to have an impact on a person’s alcohol consumption. This article also mentions that genes are not the only reasons behind alcoholism, environment can also have a large impact. Some of the ways that can be used to prevent alcoholism, include delaying consumption, limiting consumption, seeking help, and abstaining. 

    I found this article very interesting because I have never thought about my genes affecting alcohol consumption. This article also included a person’s first-hand experience with alcoholism. In this article, the person was fortunate enough to educate himself and prevent it from having a large impact on his life. The addition of statistics also helped me better understand the effects that alcohol can have on people's lives. It was very informative and led to deeper thoughts.  

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AI can improve Alzheimer's treatment through the 'gut-brain axis'

(Machine learning crunches the numbers to more easily spot drug targets for diseases influenced by the gut microbiome) The combined analysis included: Proteomics and genetic information from human and preclinical Alzheimer's disease research reveals how various metabolites and receptors (protein structures) influence patient-derived brain cells, utilizing brain cells taken from Alzheimer's disease patients, the researchers looked at the metabolite-receptor combos that had the best chance of impacting the condition. Agmatine, a protective metabolite that is believed to protect brain cells from inflammation and related damage, is one of the molecules they concentrated on. According to the study, agmatine was more likely to interact with the CA3R receptor in Alzheimer's patients. Artificial intelligence is being used by researchers to investigate the connection between Alzheimer's disease and the gut microbiota. Prior research has demonstrated that as Alzheimer's progresses, individuals have alterations in their gut flora. The paper describes a computational approach to find out how metabolites, which are byproducts of bacteria, interact with cell receptors and cause Alzheimer's disease. The combined analysis included: Proteomics and genetic information from human and preclinical Alzheimer's disease research reveals how various metabolites and receptors (protein structures) influence patient-derived brain cells, utilizing brain cells taken from Alzheimer's disease patients, the researchers looked at the metabolite-receptor combos that had the best chance of impacting the condition. Agmatine, a protective metabolite that is believed to protect brain cells from inflammation and related damage, is one of the molecules they concentrated on. According to the study, agmatine was more likely to interact with the CA3R receptor in Alzheimer's patients.

Citations: Cleveland Clinic. "AI can improve Alzheimer's treatment through the 'gut-brain axis'." ScienceDaily. ScienceDaily, 22 April 2024. .

A new peptide may hold potential as an Alzheimer’s treatment

 

Researchers treated mice with a peptide that blocks an enzyme that is typically overactive in the brains of Alzheimer's patients. They found that the treatment dramatically reduced both neurodegeneration and DNA damage in the brain. Additionally, the mice showed an improvement in cognitive abilities. 

The peptide works by targeting a mutated protein called P25 that disrupts and exacerbates typical enzyme functions, causing the neurofibrillary tangles that are characteristic of Alzheimer's disease. In testing, mice treated with the peptide showed a decrease in enzyme activity while not impeding its normal function, which led to a reduction in DNA damage, neural inflammation, and neuron loss.

This is incredibly important research. Alzheimer's research is of particular interest to me as it runs in my family, so to see such promising results from these trials is incredible. Even though the patients can't be cured, having them be mentally present for as long as possible is so important. If a treatment can slow that cognitive decline, or even improve their symptoms like the results show in this study, then it is invaluable.

Article: A new peptide may hold potential as an Alzheimer’s treatment

Additional Information: New breakthroughs on Alzheimer’s

Study Details a Common Bacterial Defense Against Viral Infection

Complex of 2 proteins enhances blockage of phage replication One protein seems to be able to repel a phage, but when it connects to another protein, the resultant complex is very good at cutting the phage's DNA to prevent it from replicating, according to research findings. According to experts, the discoveries advance our knowledge of the evolutionary processes used by bacteria and may eventually find use in biomedicine. The biological structures of GajA, GajB, and the so-called supramolecular complex GajAB—which is formed when the two bind to form a cluster made up of four molecules from each protein—were ascertained by researchers using cryo-electron microscopy. The large size and elongated configuration of the complex made it difficult to get the full picture of GajB's functional contributions when bound to GajA, Shen said, leaving the team to make some assumptions about protein roles that have yet to be confirmed. Citation: Yang, XY., Shen, Z., Xie, J. et al. Molecular basis of Gabija anti-phage supramolecular assemblies. Nat Struct Mol Biol (2024). https://doi.org/10.1038/s41594-024-01283-w

Unlocking Avian Secrets: The Power of DNA Barcoding in Bird Identification

    The study “Comprehensive DNA barcode coverage of North American birds” investigates the effectiveness of mitochondrial DNA (mtDNA) as a tool for species identification through DNA barcoding. The research involved analyzing mtDNA from 643 North American bird species using tissue samples from museum collections and feathers. DNA extraction was performed with specific tissue extraction kits, and polymerase chain reactions (PCR) were conducted using primary primers BirdR1 and BirdF1. In cases of unsuccessful amplification, alternative primers like FalcoFA and BirdR2 were employed. The amplified DNA was then visualized on agarose gel and sequenced bidirectionally at facilities including the University of Guelph and the Smithsonian. 

    The results demonstrated a high success rate, with distinct barcode clusters found in 94% of the species, supporting the strong discriminative power of DNA barcoding. Notably, approximately 2% of the species showed significant genetic divergence within what are recognized as single species, suggesting the presence of cryptic species. However, about 6% of the species had overlapping barcode clusters with closely related species, often due to hybridization or recent divergence, which illustrates some limitations of DNA barcoding in distinguishing very closely related species.

    I find the article particularly compelling as it explores the potential of mitochondrial DNA for species identification through DNA barcoding. This study not only bolsters hope for a definitive methodology in species identification but also provides a wealth of data that could be invaluable for other scientists. This detailed information about the various bird species and their unique barcodes could be instrumental for researchers and enthusiasts alike in identifying species independently. This breakthrough is exciting and I am eager to see how it will advance the field of biodiversity research.

Genetic Risk Factors for Anxiety

This article identifies 2 major indicators of an individual developing anxiety: genetic predisposition and the HPA axis in the brain. The HPA axis consists of the hypothalamus, anterior pituitary, and adrenal gland. Together these structures form the negative feedback-loop that is our stress response system. 

1. an external stressor triggers the response system

2.  the hypothalamus is stimulated and produces CRH (corticotropin-releasing hormone)

3.  CRH stimulates the pitutary gland leading to the release of ACTH (adrenocorticotropic hormone)

4. ACTH then diffuses through tissue making tis way to the adrenal gland

5. the adrenal gland releases cortisol, "the stress hormone"

6. cortisol triggers a response throughout the body and begins a negative feedback response

7. the hypothalamus diminishes the stress response

This study focuses on the HPA axis as a subject of interest. The researchers found that the NR3C1 and OXTR genes (currently understood to influence stress response) have alleles that are connected to self-assessed anxiety. It is possible that the identified alleles in these genes lead to disruptions in the feedback process mentioned above. I understand this to mean the the process begins normally but the hypothalamus either does receive to can respond to "stop" signal. It was also suggested that these gene may have varying effects between genders.

I agree with the authors that these finding are very important. Understanding the mechanisms of anxiety on a genetic level can influence patient care. It is also possible that this information can be used to identify people who are more susceptible to developing axiety and potentially implement preventative care.