Scientists in Berlin have been studying a strange hereditary condition that causes half the people in certain families to have shockingly short fingers and abnormally high blood pressure for decades. If untreated, affected individuals often die of a stroke at the age of 50. Researchers at the Max Delbrück Center (MDC) in Berlin discovered the origin of the condition in 2015 and were able to verify it five years later using animal models: a mutation in the phosphodiesterase 3A gene (PDE3A) causes its encoded enzyme to become overactive, altering bone growth and causing blood vessel hyperplasia, resulting in high blood pressure.
“High blood pressure almost always leads to the heart becoming weaker,” says Dr. Enno Klußmann, head of the Anchored Signaling Lab at the Max Delbrück Center and a scientist at the German Centre for Cardiovascular Research (DZHK). As it has to pump against a higher pressure, Klußmann explains, the organ tries to strengthen its left ventricle. “But ultimately, this results in the thickening of the heart muscle – known as cardiac hypertrophy – which can lead to heart failure greatly decreasing its pumping capacity.”
Building on the CRISPR gene-editing system, MIT researchers have designed a new tool that can snip out faulty genes and replace them with new ones, in a safer and more efficient way.
Using this system, the researchers showed that they could deliver genes as long as 36,000 DNA base pairs to several types of human cells, as well as to liver cells in mice. The new technique, known as PASTE, could hold promise for treating diseases that are caused by defective genes with a large number of mutations, such as cystic fibrosis.
“It’s a new genetic way of potentially targeting these really hard to treat diseases,” says Omar Abudayyeh, a McGovern Fellow at MIT’s McGovern Institute for Brain Research. “We wanted to work toward what gene therapy was supposed to do at its original inception, which is to replace genes, not just correct individual mutations.”
In January, Bennett’s doctors offered him the chance to receive a heart from a pig. He took it. “I know it’s a shot in the dark, but it’s my last choice,” he said in a press release from the University of Maryland Medical Center in Baltimore, where he was being treated. On 7 January, doctors transplanted the heart, which had been genetically modified so that the human body would tolerate it.
Bennett survived for eight weeks with his new heart before his body shut down. After his death, the research team learnt that the transplanted organ was infected with a pig herpesvirus that had not been detected by tests1.
But even a few weeks is a long time for an animal organ placed in a human, known as a xenotransplant. Given that the human immune system begins attacking non-genetically modified pig organs in minutes, other xenotransplantation researchers are impressed with the experiment. “It’s actually beyond my expectation that the patient lived up to two months,” says Luhan Yang, a bioengineer and chief executive of Qihan Biotech in Hangzhou, China. “I think it’s a victory for the field.”
The discovery could lead to potential future targeted therapies and treatments for this brain disorder.
Researchers have found two novel genes that increase an individual’s risk of developing Alzheimer’s disease (AD). This disorder is the leading cause of dementia and has an estimated heritability —genetic factor causing variation in the population, or an inherited trait— of 70%.
A University of Maryland researcher and colleagues found that the fungus Metarhizium robertsii removes mercury from the soil around plant roots, and from fresh and saltwater. The researchers also genetically engineered the fungus to amplify its mercury detoxifying effects.
Mercury pollution of soil and water is a worldwide threat to public health. This new work suggests Metarhizium could provide an inexpensive and efficient way to protect crops grown in polluted areas and remediate mercury-laden waterways.
The study, which was conducted by UMD professor of entomology Raymond St. Leger and researchers in the laboratory of his former post-doctoral fellow, Weiguo Fang (now at Zhejiang University in Hangzhou, China), was published in Proceedings of the National Academy of Sciences (PNAS) on November 14, 2022.
New research from the University of California, Irvine, suggests aging is an important component of retinal ganglion cell death in glaucoma, and that novel pathways can be targeted when designing new treatments for glaucoma patients.
The study was published today in Aging Cell. Along with her colleagues, Dorota Skowronska‐Krawczyk, Ph.D., assistant professor in the Departments of Physiology & Biophysics and Ophthalmology and the faculty of the Center for Translational Vision Research at the UCI School of Medicine, describes the transcriptional and epigenetic changes happening in aging retina.
The team shows how stress, such as intraocular pressure (IOP) elevation in the eye, causes retinal tissue to undergo epigenetic and transcriptional changes similar to natural aging. And, how in young retinal tissue, repetitive stress induces features of accelerated aging including the accelerated epigenetic age.
Researchers have identified seven genetic markers linked with a woman’s breast size, according to a new study.
While it’s was known that breast size is in part heritable, the study is the first to find specific genetic factors that are associated with differences in breast size, the researchers said.
Study of more than 195,000 people finds 16 common genetic variants associated with muscle strength and gives insight into underlying biological mechanisms.
Sponsored by Kishore Tipirneni’s new book “A New Eden” available here: https://getbook.at/NewEden | Abiogenesis – origin of life. Living matter from non-living matter. The origin of living organisms from inorganic or non-living material is called abiogenesis. But abiogenesis is not evolution.
Despite the incredible variations of life we see today, at the fundamental level, all living things contain three elements: Nucleic acids, Proteins, and lipids. These three things had to have been present in order for life to start.
The most important component may have been lipids which make up the cell walls because without a way to encapsulate certain elements, they various chemicals could not come together to potentially interact.
Lipids molecules have a unique structure. The round part loves water. The tail part hates water. So it has a tendency to self-assemble into natural spheres. However, when there are certain salt ions present, it destroys the lipid spheres. But RNA and other functions of a cell require salts and other ions. However, researchers at the University of Washington showed that lipid spheres do not disassemble if they are in the presence of amino acids, precursor to protein molecules. So it turns out that lipid cell walls and proteins need each other to exist, in salty water.
Today, genetic information is stored in DNA. RNA is created from DNA. The simplicity of RNA compared to its cousin DNA, is the reason that most scientists think DNA came from RNA. This is part of the RNA world” HYPOTHESIS, which theorizes that RNA was the essential precursor which led to the first living matter. But how did the first RNA molecule form from non-living chemicals? This is not clear cut, so here are some theories. RNA is made of three chemical components: the sugar ribose, the bases and phosphate. Figuring out how the bond between the bases and ribose first formed has been a difficult to replicate in the lab because cells in our body require complex enzymes to bring RNA building blocks together before they combine to form polymers. In a 2009 study, researchers at Rensselaer Polytechnic Institute showed that RNA could have formed on the surface of clays which act like catalysts to bring RNA bases together.
But how did proteins form? In the 1950s, several experiments by Stanley Miller and Harold Urey verified that the natural formation of amino acids, components of proteins, was possible under the atmospheric conditions of Primordial Earth. It turns out that it’s pretty easy to form many kinds of organic molecules, in a wide range of environments.
