New research suggests how PCOS may be partly inherited through “epigenetic memory,” offering insight into why the condition tends to run in families.
Category: genetics – Page 40
Novel molecular mechanisms inform targeted therapies for chronic kidney disease
A recent study led by Paul DeCaen, Ph.D., associate professor of Pharmacology, has identified novel molecular mechanisms by which genetic mutations in the PKD2 gene cause the most common form of polycystic kidney disease, according to findings published in the Proceedings of the National Academy of Sciences.
PKD2 encodes an ion channel localized to the primary cilia of cells lining the kidney collecting ducts, a series of tubules and ducts that helps achieve electrolyte and fluid balance in the body. Both inherited and acquired mutations in PKD2 are known to cause autosomal dominant polycystic kidney disease (ADPKD), a condition characterized by the growth of fluid-filled cysts in the kidneys that can lead to kidney failure and other serious complications.
According to the National Institute of Diabetes and Digestive and Kidney Diseases, one in 1000 individuals will develop ADPKD and more than 95% of patients carry disease-causing genetic variants in PKD1 or PKD2. However, there are no available therapies that target these disease-causing variants.
“We Engineered the Perfect Space Food”: US Scientists Unveil Super-Dwarf Plant Designed to Keep Astronauts Alive and Thriving on Years-Long Missions to Mars
IN A NUTSHELL 🌾 The Moon-Rice project is developing “super-dwarf” rice to support long-duration space missions and extreme Earth environments. 🛰️ Led by the Italian Space Agency, the project involves collaboration between three Italian universities specializing in rice genetics, crop physiology, and space crop production. 🔬 The research focuses on using CRISPR-Cas technology to create
Scientists map pathogens that plagued humans for 37,000 years
Researchers have uncovered the types of bacteria, viruses and parasites that plagued ancient humans across Europe and Asia as far back as 37,000 years ago.
An international team, including researchers from the University of Copenhagen, Denmark, Lund University, Sweden, Curtin University, Australia, has created an archaeogenetic-based map of human pathogens across both time and geography.
“Infectious diseases have had devastating effects on human populations throughout history, but important questions about their origins and past dynamics remain,” the authors write.
17y Younger Biological Age (Test #4 in 2025): Supplements, Diet
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Role of plasmin in metastatic tumors
FasL is an immune cell membrane protein that triggers a programmed cell death called apoptosis. Activated immune cells, including CAR-T cells made from a patient’s immune system, use apoptosis to kill cancer cells.
The team discovered that in human genes, a single evolutionary amino acid change — serine instead of proline at position 153 — makes FasL more susceptible to being cut and inactivated by plasmin.
Plasmin is a protease enzyme that is often elevated in aggressive solid tumors like triple negative breast cancer, colon cancer and ovarian cancer.
This means that even when human immune cells are activated and ready to attack the tumor cells, one of their key death weapons — FasL — can be neutralized by the tumor environment, reducing the effectiveness of immunotherapies.
The findings may help explain why CAR-T and T-cell-based therapies can be effective in blood cancers but often fall short in solid tumors. Blood cancers often do not rely on plasmin to metastasize, whereas tumors like ovarian cancer rely heavily on plasmin to spread the cancer.
Significantly, the study also showed that blocking plasmin or shielding FasL from cleavage can restore its cancer-killing power. That finding may open new doors for improving cancer immunotherapy.
Novel Gene Therapy Trial for Sickle Cell Disease Launches
UCSF Benioff Children’s Hospital Oakland is enrolling patients in an innovative clinical trial that seeks to cure sickle cell disease. The trial is the first in the U.S. to apply non-viral CRISPR-Cas9 gene-editing technology in humans to directly correct the genetic mutation that causes the disease.
MIT engineers develop electrochemical sensors for cheap, disposable diagnostics
Using an inexpensive electrode coated with DNA, MIT researchers have designed disposable diagnostics that could be adapted to detect a variety of diseases, including cancer or infectious diseases such as influenza and HIV.
These electrochemical sensors make use of a DNA-chopping enzyme found in the CRISPR gene-editing system. When a target such as a cancerous gene is detected by the enzyme, it begins shearing DNA from the electrode nonspecifically, like a lawnmower cutting grass, altering the electrical signal produced.
One of the main limitations of this type of sensing technology is that the DNA that coats the electrode breaks down quickly, so the sensors can’t be stored for very long and their storage conditions must be tightly controlled, limiting where they can be used. In a new study, MIT researchers stabilized the DNA with a polymer coating, allowing the sensors to be stored for up to two months, even at high temperatures. After storage, the sensors were able to detect a prostate cancer gene that is often used to diagnose the disease.