Researchers at the University of Alberta have identified a universal mechanism that ensures peroxisomes transfer into cells after division, potentially leading to prevention or treatment of deadly disorders. The discovery has implications for screening carriers and could help babies born with peroxisome disorders survive longer.
A team of scientists has discovered that burrowing frogs can survive for years without food or water by changing their cell metabolism to maximize energy efficiency. This radical adaptation could have significant medical applications, particularly in treating energy-related disorders like obesity.
A new mouse model reveals that innate immunity plays a key role in driving symptoms of auto-inflammatory diseases. The study shows that the innate immune system is responsible for the over-activation leading to inflammation and symptoms.
Researchers identify protein-protein interaction as a key factor in vision loss among people with genetic diseases, including Bardet-Biedl Syndrome. The study provides a blueprint for unraveling variations in other genetic diseases.
A study by Dr. Nicolas Bazan at LSU Health Sciences Center has found that an omega three fatty acid called docosahexaenoic acid (DHA) protects brain cells from misfolding proteins associated with Parkinson's disease and other neurodegenerative disorders.
Research found that inflammation weakens collagen caps in atherosclerotic plaques, making them more prone to rupture. The study identifies lysyl-oxidase as a potential target for preventing plaque rupture and thrombosis.
Scientists have discovered a new syndrome associated with severe congenital neutropenia, linked to mutations in the G6PC3 gene. The study found that these mutations affect glucose levels, leading to cellular stress and immune system dysfunction, potentially relevant to other diseases.
Researchers found that stress activates immune cells, which initiate and perpetuate skin diseases. Blocking specific proteins prevented the increase in white blood cells, suggesting a key role for ICAM-1/LFA-1 interactions.
A recent study published in Nature Medicine found that fetal cells implanted in patients with Parkinson's disease can develop Lewy body pathology, a defining characteristic of the disease. The study suggests that cell replacement strategies for Parkinson's disease may not be effective in the long-term.
Researchers at NIH have successfully treated a patient with a rare disorder using cancer drug imatinib, which is also effective against systemic mastocytosis and chronic basophilic leukemia. The study's findings offer new treatment options for patients with these complex conditions.
Researchers at EMBL have identified a molecule called n-cofilin crucial for preventing neuronal disorders. The protein helps organise cell skeleton, essential for brain development and function.
A new study reveals an alternative distribution mechanism in female sex cells that cause chromosome disorders, leading to infertility and irregular numbers of chromosomes. This fundamental mechanism may help explain the common occurrence of such disorders in females.
A study published in Neuron reveals that genetic mutations in SHP-2 lead to an imbalance in brain cell development, resulting in mental retardation. The researchers found that the mutation causes neurons to overgrow and inhibits glial cell formation, disrupting neural balance.
A defect in one copy of the EGR2 gene disrupts myelin production, leading to peripheral neuropathy. Researchers have deciphered a key sequence essential to myelin assembly, paving the way for new therapies.
The American Association for Cancer Research (AACR) has awarded its inaugural Team Science Award to a multidisciplinary team of researchers from the University of Michigan and Harvard Medical School/Brigham and Women's Hospital. The award recognizes their groundbreaking discovery of gene fusions in prostate cancer, which has significan...
Researchers identified a connection between pregnane X receptor (PXR) and neuroprotection in a mouse model of Niemann-Pick type C disease. Activating PXR with known activators, such as dilantin and St. John's Wort, may help clear toxic cholesterol byproducts.
Researchers at Rockefeller University discovered that calnexin plays a crucial role in forming the ?IIb?3 receptor complex. The study highlights the importance of calnexin in protein folding and degradation, which may lead to new strategies for treating common diseases.
A new study shows that hydroxyurea is an efficient and safe treatment option for young children with sickle cell anemia, improving spleen function and reducing acute chest syndrome incidents
A recent study found that circulating stem cells contribute less than 1% to lung repair, while most contributions come from lung-resident stem cells. The study also suggests a link between the number of Y-chromosome containing pneumocytes and acute cellular rejection in lung tissue.
Studies in mice with genetically engineered mutant huntingtin protein found that widespread production led to locomotor problems, neurodegeneration, and abnormal brain connections. Conversely, restricted production showed little difference from normal mice, suggesting cellular interactions play a significant role in HD pathogenesis.
Researchers at Rice University aim to create implantable TMJ discs grown from patient cells, offering a potential alternative to transplantation. The goal is to provide a treatment option for the nearly 11 million Americans suffering from TMJ disorders.
Researchers at UT Southwestern have made significant progress in understanding lipodystrophies, rare disorders characterized by partial or total loss of fat tissues. Recent studies have identified gene mutations and novel therapeutic approaches for these patients, which may also be applicable to obese individuals with abnormal fat dist...
A study has identified a genetic mutation in MCFD2 that causes a rare bleeding disorder by disrupting the transport of clotting factors V and VIII. The researchers propose a new therapeutic target, suggesting a potential alternative to existing anticoagulants.