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Protein C deficiency is a rare but serious condition that can be congenital or acquired. Patients with this condition have a higher propensity to develop disseminated intravascular coagulation or venous thromboembolism, and these may comprise the initial presentation of the disease.
This activity reviews the presentation, evaluation, and management of protein C deficiency and highlights the role of the interprofessional team in managing patients with this condition:
Yes, FENZOR is similar to CRISPR. Both are gene editing tools that allow scientists to precisely modify DNA sequences.
However, FENZOR has a unique advantage: it’s the first programmable RNA-guided system discovered in eukaryotes. This means it’s more likely to be compatible with human cells and other complex organisms.
Key similarities to CRISPR:
RNA-guided: Both systems use RNA molecules to target specific DNA sequences.
Gene editing: Both can be used to insert, delete, or modify genes.Key difference:
Origin: CRISPR originated from bacteria, while FENZOR was discovered in a higher organism.
Overall, FENZOR is a promising new tool with potential applications in various fields, including medicine and biotechnology.
The PDE10A gene encodes the enzyme phosphodiesterase 10A, which is part of the cyclic nucleotide phosphodiesterase family. This enzyme plays a crucial role in signal transduction by regulating the intracellular concentration of cyclic nucleotides like cAMP and cGMP.
Function: It hydrolyzes both cAMP and cGMP, with a higher affinity for cAMP.
Location: It is highly expressed in the striatum, a brain region involved in movement and cognition.
Clinical Relevance: Dysfunctions in PDE10A are linked to disorders like schizophrenia and striatal degeneration.The PDE10A gene is linked to the remarkable diving abilities of the Bajau people, also known as the “Sea Nomads.” Studies have shown that a specific variant of the PDE10A gene is associated with larger spleens in the Bajau. This adaptation allows them to store more oxygenated red blood cells, enabling them to hold their breath and dive for extended periods.
Besides the larger spleens linked to the PDE10A gene, the Bajau people, or “Sea Nomads,” have other genetic adaptations that enhance their diving abilities:
1. Thyroid Hormone Regulation: Variants in genes controlling thyroid hormone levels, such as T4, help increase metabolic rate and oxygen efficiency.
2. Oxygen Management: Genes like FAM178B are involved in maintaining proper pH balance in the blood, aiding in efficient oxygen use.
3. Blood Flow Adaptation: Certain genes help redirect blood flow from the limbs to vital organs like the brain, heart, and lungs during dives.These adaptations collectively enable the Bajau to dive deeper and longer than most people.
This genetic mutation is believed to have evolved through natural selection, favoring individuals with enhanced diving capabilities.
Try reading this:
Hachimoji DNA, from the Japanese 八文字 hachimoji, meaning “eight letters”, is a synthetic nucleic acid analog. It uses four synthetic nucleotides in addition to the four present in the natural DNA. This leads to four allowed base pairs: two unnatural base pairs formed by the synthetic nucleobases in addition to the two normal pairs. The two unnatural pairs are: P binds with Z and B binds with S.
Hachimoji DNA is similar to natural DNA but differs in the number, and type, of nucleobases. An enzyme (T7 polymerase) was adapted by the researchers to be used in vitro to transcribe hachimoji DNA into hachimoji RNA, which, in turn, produced chemical activity in the form of a glowing green fluorophore.
Benefits of such a nucleic acid system may include an enhanced ability to store data, as well as insights into what may be possible in the search for extraterrestrial life.
CAR T cell = Chimeric Antigen Receptor T cell. Chimeric antigen receptors (CARs) are receptor proteins that have been engineered to give T cells the new ability to target a specific antigen. The receptors are chimeric in that they combine both antigen-binding and T cell activating functions into a single receptor.
CAR T cell therapy uses T cells engineered with CARs to treat cancer. The premise of CAR-T immunotherapy is to modify T cells to recognize cancer cells in order to more effectively target and destroy them. Scientists harvest T cells from people, genetically alter them, then infuse the resulting CAR T cells into patients to attack their tumors.
1. T cells are isolated from a patient’s blood.
2. A new gene encoding a chimeric antigen receptor is incorporated into the T cells.
3. Engineered T cells are now specific to a desired target antigen.
4. Engineered T cells are expanded in tissue culture.
5. Engineered T cells are infused back into the patient.Source: CAR T cell – Wikipedia
Precision medicine and personalized medicine are often used interchangeably. Both terms refer to the tailoring of medical treatment to the individual characteristics of each patient. The goal is to classify individuals into subpopulations that differ in their susceptibility to a particular disease, in the biology or prognosis of those diseases they may develop, or in their response to a specific treatment. However, some authors and organizations use these expressions separately to indicate particular nuances.
Von Hippel–Lindau disease (VHL), also known as Von Hippel–Lindau syndrome, is a rare genetic disorder with multisystem involvement. It is characterized by visceral cysts and benign tumors with potential for subsequent malignant transformation. It is a type of phakomatosis (a group of multisystemic diseases that most prominently affect structures primarily derived from the ectoderm such as the central nervous system, skin and eyes) that results from a mutation in the Von Hippel–Lindau tumor suppressor gene on chromosome 3p25.3.
Von Hippel–Lindau disease – Wikipedia
Using DNA origami, researchers created traps that encase large viruses—such as SARS-CoV-2, influenza A, and Zika—in hopes of preventing them from infecting cells. This was proved in-vitro, and still needs to be tried in-vivo.
DNA origami traps for large viruses: Cell Reports Physical Science
The proteolysis-targeting chimera (PROTAC) molecule consists of three components, a ubiquitin E3 ligase ligand, a linker, and a target protein ligand. PROTACs are dependent on the ubiquitin proteasome system (UPS) for degradation of target proteins.
PROTAC technology has received enormous attention for its ability to overcome the limitations of protein inhibitors and its capability to target undruggable proteins. The application of this technology is rapidly gaining momentum, especially in cancer therapy. Many companies are working in this area of emerging new modality and a few PROTACs have already entered clinical trials.The ‘wanderlust gene’ is the gene DRD4-7R and apparently, those with this gene are much more prone to risk-taking and tend to have more of a need to travel or see the world. This gene seems to be present in some people with ADHD and Schizophrenia as well. DRD4 is the gene that codes for the building of the Dopamine 4 receptor. There are several different versions of this gene but the DRD4-7R is one that draws the most attention. this gene is present in somewhere around 20 percent of the population and those with it are more likely to seek experiences that release more dopamine as they are much less sensitive to dopamine than the average person.
I have read about experimental trials to decrease the number of tandem triplet repeats in Huntington gene. I will keep searching.
Artificial chimerism occurs by tissue and organ transplantation. A recipient of bone marrow transplant has a second cell line different from the original (host) one.
As to natural chimerism, twin fusion is rare. The twins are usually tetragametic but may be trigametic. Blood chimeras are formed by blood transfusion between dizygotic twins via the shared placenta and are more common than was once assumed.
Here is a very good review of the subject: Natural human chimeras: A review.
