The molecular and cellular mechanisms underlying ovarian aging are incompletely understood. Here the authors provide single-nuclei RNA and ATAC-seq of human ovarian tissue from four young and four reproductively aged donors, revealing coordinated transcriptomic and epigenomic changes across cell types and highlighting a role for mTOR signaling in reproductive aging.
Category: genetics – Page 35
To maintain a healthy immune system, doctors advise patients to take vitamins and minerals. Vitamins have many functions that benefit the body, including resisting infection, energy boost, aiding in blood clotting, improving brain function, generation of red blood cells, promoting a healthy gut microbiome, improving wound healing, preventing eye deterioration, and developing strong bones. We can get vitamins from various sources, including orange juice, which is rich in vitamin C, folate, and potassium. Physicians often recommend supplements for patients low on specific vitamins. However, dysregulation of vitamins can weaken the immune system and promote overall bad health. One vitamin in particular that helps maintain cellular function includes B12. This vitamin is essential to generate DNA and red blood cells, and aids in nerve function, energy conversion, and protein metabolism. When a patient has a B12 deficiency it can result in muscle weakness, numbness in hands and feet, difficulty walking, nausea, loss of appetite, and unintentional weight loss. In addition, it can allow the buildup of a small molecule known as methylmalonic acid (MMA).
In healthy tissues, vitamin B12 helps break down MMA. In B12 deficient patients, MMA is increased and can be measured through blood or urine samples. Methylmalonic acid is produced when proteins in your muscle, known as amino acids, are broken down. Tests to determine B12 deficiency or a genetic disorder are done by physicians at birth and after the appearance of symptoms related to B12 deficiency. Interestingly, a group of scientists have discovered a new deleterious role of MMA in lung carcinoma.
A recent publication from Oncogene, by Dr. Ana P. Gomes and others, demonstrated that MMA in aged patients weakens immune cell function and promotes lung cancer progression. Gomes is a professor of molecular oncology at Moffitt Cancer Center in Florida. Her work specifically focuses on understanding metabolic changes as we age and how this change in metabolism influences cancer risk.
Cell-to-cell communication through nanosized particles, working as messengers and carriers, can now be analyzed in a whole new way, thanks to a new method involving CRISPR gene-editing technology. The particles, known as small extracellular vesicles (sEVs), play an important role in the spread of disease and as potential drug carriers. The newly developed system, named CIBER, enables thousands of genes to be studied at once, by labeling sEVs with a kind of RNA “barcode.” With this, researchers hope to find what factors are involved in sEV release from host cells. This will help advance our understanding of basic sEV biology and may aid in the development of new treatments for diseases, such as cancer.
Your body “talks” in more ways than one. Your cells communicate with each other, enabling your different parts to function as one team. However, there are still many mysteries surrounding this process. Extracellular vesicles (EVs), small particles released by cells, were previously thought to be useless waste. However, in recent decades they have been dramatically relabeled as very important particles (VIPs), due to their association with various diseases, including cancer, neurodegenerative diseases and age-related diseases.
Small EVs have been found to play a key role in cell-to-cell communication. Depending on what “cargo” they carry from their host cell (which can include RNA, proteins and lipids), sEVs can help maintain normal tissue functions or can further the spread of diseases. Because of this, researchers are interested in how sEVs form and are released. However, separating sEVs from other molecules and identifying the factors which lead to their release is both difficult and time-consuming with conventional methods. So, a team in Japan has developed a new technique.
An exciting Focused Research Organization (FRO): is systematically developing tools for working with non-model microorganisms.
As we walked, Lee told me that’s efforts to make “extraordinary” organisms accessible almost always follow the same basic steps. First, the team orders a microbe from ATCC, a non-profit group that has been storing and mailing microbes to researchers since 1925. The ATCC catalog includes more than 14,000 bacterial strains, the vast majority of which gather dust and are rarely ordered by researchers.
After receiving a microbe in the mail, sequences it. Mutations can creep into strains over time, and even a seemingly minor alteration—a single base swapped here or there—can change how cells grow and respond to their environment.
Lee told me that he once sequenced Vibrio natriegens stored in the ATCC database. Ten years later, a professor at Harvard ordered the same microbe from ATCC and sequenced its genome again. But the professor noticed a small change: the Vibrio cells now carried a single mutation in a ribosomal gene that made the cells sickly and slow-growing. This mutation had not been present when Lee studied the same microbes just a decade prior: evidence that nothing in biology remains constant. By sequencing the genome, constructs a record from which to diagnose future problems.
Ed Boyden is a professor at the MIT Media Lab working on the most advanced brain-computer interfacing technology currently available, optogenetics. At Singularity Summit 2009.
Oxford Nanopore Technologies and Wasatch BioLabs have joined forces to develop a groundbreaking direct whole-methylome sequencing (dWMS) product. This collaboration addresses the limitations of traditional methylation sequencing methods, such as bisulfite sequencing and methylation microarrays.
By leveraging Oxford Nanopore’s advanced sequencing technology and Wasatch BioLabs’ proprietary methylation assays, the partners aim to offer a more comprehensive and accurate approach to studying epigenetic modifications. dWMS eliminates the need for harsh chemical treatments and PCR amplification, reducing biases and improving genome-wide coverage.
This innovative technology has the potential to revolutionize epigenetic research, providing valuable insights into the role of methylation in various biological processes and diseases. The collaboration between these two companies is poised to drive significant advancements in genomics and precision medicine.
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New research from the Kind Group at the Hubrecht Institute sheds light on how cells repair damaged DNA. For the first time, the team has mapped the activity of repair proteins in individual human cells.
The study demonstrates how these proteins collaborate in so-called “hubs” to repair DNA damage. This knowledge offers opportunities to improve cancer therapies and other treatments where DNA repair is essential. The researchers published their findings in Nature Communications on November 21.
DNA is the molecule that carries our genetic information. It can be damaged by normal cellular processes as well as external factors such as UV radiation and chemicals. Such damage can lead to breaks in the DNA strand. If DNA damage is not properly repaired, mutations can occur, which may result in diseases like cancer. Cells use repair systems to fix this damage, with specialized proteins locating and binding to the damaged regions.
Recent breakthroughs in genetics research may have uncovered new genes underlying common psychiatric disorders. Schizophrenia and bipolar disorder affect more than 64 million people around the world. These disorders are strongly influenced by genetics. No one gene, however, determines one’s risk of developing schizophrenia or bipolar disorder. Rather, it is likely that a host of genes contribute to risk. Using artificial intelligence, researchers at Stanford University now have uncovered complex variants throughout the human genome that may contribute to these psychiatric disorders. This new study suggests that mutations that occur after fertilization, such as genetic mosaicism, may be responsible for a number of psychiatric disorders including bipolar disorder and schizophrenia.
Think of a genome as a living book with instructions for every cell in the body. Our genes are the chapters. We have approximately 200,000 genes that provide instructions for making proteins, the building blocks of life. The vast majority of our genes, however, are non-coding, meaning that they do not provide instructions for proteins. Nonetheless, these genes play an important role in genetics and regulating cell function.
Genetic variants, or spelling changes, in either a coding or non-coding region can interfere with how the cell translates specific instructions. A small typo may have little to no effect on how the book is read. However, larger spelling changes can lead to the deletion of a sentence or even a whole chapter. Without the correct instructions to produce specific proteins, these spelling changes can contribute to disorders that impact different aspects of our body.
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