Articles tagged with Cell Pathology
Marina Cavazzana and Adrian Thrasher have been honored with the Pioneer Award for basic and clinical gene therapy for immunodeficiency disorders. They are pioneers in treating life-threatening inherited diseases of the immune system with gene therapy, using a patient's own modified stem cells.
A crucial amino acid signal regulates centrosome duplication and its absence leads to pathologically altered cells found in people with microcephaly. This discovery sheds light on the development of this neurodevelopmental disorder.
Researchers tested a drug that acts like growth-promoting protein BDNF and found it reduces degeneration and motor deficits in two mouse models of Huntington's disease. The findings suggest drugs that enhance BDNF action could be effective therapeutics for treating the disorder.
The Stanford team found that the 'hot exciton effect' does not exist, contradicting widely accepted scientific theory. Instead, they suggest that disorder at the molecular level may play a key role in separating electron-hole pairs, leading to improved energy efficiency.
Researchers establish proof-of-principal for silencing extra chromosome 21 in cells, advancing translational research and surmounting major obstacle to 'chromosome therapy'. This breakthrough paves the way for studying cell pathologies and identifying genome-wide pathways implicated in Down syndrome.
Researchers at UC San Diego used a newly discovered function of an old drug to restore cell communications in a mouse model of autism, reversing symptoms. The findings suggest that correcting abnormalities in a mouse is a long way from a cure for humans but offer encouragement to test this approach in a small clinical trial.
A large-scale genetic study has identified four shared genetic risk loci across five major psychiatric disorders, including bipolar disorder and schizophrenia. The findings suggest that a new classification system based on underlying causes may be possible in the future.
Researchers at the University of Pennsylvania School of Medicine developed a new animal model that replicates the transmission of tau pathology, a hallmark of Alzheimer's disease. The study demonstrates that synthetic tau fibrils can induce authentic neurofibrillary tangles and initiate disease progression in mice.
Scientists at the University of Rochester Medical Center claim to be close to human application of stem cell therapies for neurological diseases. They focus on oligodendrocytes and glial progenitor cells, which can be easily manipulated and transplanted.
Researchers develop safe approach to produce stable vascular endothelial cells from human amniotic cells, opening door to treating diverse vascular disorders. The new cell-based strategy has promise in mice and may benefit millions of patients worldwide.
Researchers at Wayne State University are searching for potential drug targets to treat Barth Syndrome, a rare genetic disorder that affects the heart muscle and energy metabolism. Led by Miriam L. Greenberg, the team hopes to identify new treatments by restoring the TCA cycle metabolites affected by cardiolipin deficiency.
Researchers have developed a method to enhance adhesion of injected corneal endothelial cells, allowing for successful corneal transplantation and repair of pathological dysfunctions. Transplanting cultivated cells in combination with the ROCK inhibitor Y-27632 successfully restored corneal transparency in rabbit and monkey models.
A study using disease-in-a-dish technology has grown neurons from Timothy Syndrome patients' skin cells, revealing defects in brain wiring and cellular calcium regulation. The findings support the link between the genetic mutation and developmental abnormalities, including reduced corpus callosum size.
Researchers at Mayo Clinic found that eliminating senescent cells can prevent or delay the onset of age-related disorders and disabilities. The study showed that lifelong elimination of these cells delayed age-related disorders such as cataracts and muscle loss, and slowed their progression in already established diseases.
Rutgers University has established a stem cell repository to study mental health disorders such as autism and schizophrenia. The repository will provide researchers with induced pluripotent stem cells derived from individuals with these conditions, enabling them to better understand the causes of mental disorders.
Researchers discovered that longer flanking repeat regions and timing of genetic recombination affect the risk of genomic disorders. Studies on Smith-Magenis syndrome and Potocki-Lupski syndrome found correlations between chromosome length and genetic material loss or duplication.
A new study links an inherited mutation in the myelin oligodendrocyte gene (MOG) to rare forms of narcolepsy and multiple neuropsychiatric disorders. The research identifies a unique mutation present only in affected family members, highlighting the role of MOG in disease susceptibility.
The NIH Blueprint empowers researchers to develop new treatments for neurological disorders, such as vision loss, neurodegenerative disease, and depression. Seven research teams have received funding to explore promising strategies for creating faster and more effective antidepressants.
Researchers have discovered that both types of polycythemia, previously thought to require different treatments, can be effectively treated with JAK2 inhibitors. This finding offers new hope for patients with Chuvash polycythemia, a disease affecting only a small number of people worldwide.
Researchers developed a transgenic mouse model of the rare neurodegenerative disorder HDL2 to study its pathogenesis. The study found overlapping polyQ-mediated mechanisms with Huntington's disease and identified a novel expanded polyQ protein driving disease progression in HDL2 mice.
Researchers demonstrate the role of cellular bioenergetics in selectively inhibiting pathogenic lymphocytes while preserving normal immune function. Lycera's prototype compound Bz-423 induces selective apoptosis of alloreactive donor T cells, reversing graft-versus-host disease and improving survival in mice.
A new study has uncovered the role of Sortilin in regulating Progranulin levels in neurons, which may hold promise for treating frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS). The research found that Sortilin-mediated PGRN endocytosis is a key pathway underlying FTLD-TDP pathophysiology.
Researchers discovered that mutations in the 'Fritz' gene can cause cell movement problems and cilia malfunctions, leading to conditions such as mental retardation, obesity, and blindness. The findings shed light on mechanisms regulating cellular machinery during embryonic development and its link to human disease.
A study reveals that an enzyme involved in multiple disorders also generates toxic protein fragments in Huntington's disease, causing neuron death. Researchers propose inhibiting MMP family members as a potential therapeutic strategy.
Researchers found autophagy is crucial for inner ear development and balance sensing in mice, suggesting potential therapeutic approaches for human balance disorders. The study's findings indicate a role for autophagy in functions beyond degrading cellular constituents.
A mutation in the TRPA1 gene has been identified as the cause of familial episodic pain syndrome (FEPS), a rare inherited pain disorder. The research proposes potential treatment options using pharmacological compounds that inhibit the mutant channel.
The Coriell Institute for Medical Research will enhance its collection of carefully maintained human cell lines by adding induced pluripotent stem (iPS) cells carrying disease gene mutations. The addition will enable scientists to study a wide range of diseases and make the repository an even more valuable resource.
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.