Articles tagged with Cell Pathology
Researchers used stem cells from patients with Angelman syndrome to identify the underlying cellular defects that cause the disorder. They found that brain cells fail to mature, disrupting synaptic connections critical for learning and cognitive development.
Researchers discovered that excess tau protein damages brain's GPS, leading to spatial disorientation and cognitive deficits in Alzheimer's disease. The findings may lead to early diagnostic tests and novel targets for treating this common symptom.
A complex of genes regulating epigenetic mechanisms is linked to premenstrual dysphoric disorder (PMDD), a condition affecting 2-5% of women of reproductive age. Dysregulated expression of these genes suggests abnormal cellular response to sex hormones, which may hold hope for improved treatment.
A recent study suggests that an enzyme deficiency in Krabbe's disease could contribute to mechanisms underlying Parkinson's disease and other neurodegenerative disorders. The protective myelin coating around nerve cells is compromised due to galactosylceramidase deficiency, a condition with currently no cure.
Researchers identified a new hormone, asprosin, generated by fat, which instructs the liver to release glucose into the blood stream. This discovery could lead to a new treatment for type 2 diabetes through immunologic sequestration.
Researchers have developed a new technology to examine gene expression in single cells, shedding light on the molecular causes of rare diseases. The study found highly variable and different gene expression patterns in single cells, even in the same organ.
A lamprey monoclonal antibody specifically targets human plasma cells, exhibiting potential for both diagnostic and therapeutic applications in treating multiple myeloma. This unique tool offers new avenues for research into plasma cell disorders.
The Saban Research Institute at Children's Hospital Los Angeles has received a $7.1 million grant from the California Institute of Regenerative Medicine to develop an 'off-the-shelf' cellular therapy for enteric neuropathies, which affect the digestive system. The goal is to create nerve cells from human induced pluripotent cells to tr...
Researchers discovered a new class of common variable immunodeficiency disorder (CVID) caused by IKAROS gene mutations, enabling definitive genetic diagnosis and potential personalized treatment. The study found six unrelated families sharing similar symptoms and changes in the same gene, highlighting the need for early intervention.
Researchers have identified a novel drug target for treating Rett Syndrome and other forms of autism-spectrum disorders. By increasing KCC2 function in diseased nerve cells, the treatment may alleviate symptoms and improve brain development.
Recurrent Strep A infections may lead to autoimmune neuropsychiatric disorders in children through a previously unknown route. Immune cells triggered by the infection travel along odor-sensing neurons to reach the brain, causing inflammation and promoting neuroinflammation.
Researchers discovered that children with autism spectrum disorder exhibit a unique sniffing pattern when exposed to pleasant or unpleasant odors, allowing for accurate classification with high accuracy. The study suggests that olfactory tests could be used as an early indicator of ASD, potentially leading to more effective intervention.
MIT researchers discovered a neural circuit that underlies approach-avoidance conflict, a type of decision-making that elicits anxiety. By manipulating this circuit in rodents, they showed that it can transform preferences for lower-risk choices into those for bigger payoffs despite their costs.
Researchers found that nerve cells act as barriers or guides to position themselves correctly, creating a map for other cells to follow. This study uncovers an exciting new mechanism for how nerve cells position themselves in the first place, with important implications for understanding neurodevelopmental disorders.
A nationwide study found that platelet transfusions in rare blood cell disorders increase the risk of arterial clots and mortality. For thrombotic thrombocytopenic purpura (TTP) and heparin-induced thrombocytopenia (HIT), these transfusions are associated with a fivefold to sixfold increase in death odds.
Despite global improvements in life expectancy, death rates for certain causes such as drug use disorders, liver cancer, and chronic kidney disease have increased since 1990. Global life expectancy has risen by 5.8 years in men and 6.6 years in women between 1990 and 2013, according to the Global Burden of Disease Study 2013.
Researchers have discovered ferroptosis, a regulated form of necrosis that occurs in various pathological conditions. Ferroptosis inhibitors, such as Liproxstatin-1, offer novel therapeutic opportunities to mitigate diseases previously thought to be untreatable.
A study reveals that distinct genetic mutations in neurodevelopmental disorders produce similar molecular effects, suggesting a one-size-fits-all therapeutic approach may be effective for conditions like seizures and ADHD. The research identifies shared molecular pathways involved in these diseases, providing new insights into their ca...
A team of researchers from the University of Pennsylvania School of Medicine has developed new cell culture and mouse models to test immunotherapy for Parkinson's disease. By targeting distorted alpha-synuclein proteins, they prevented pathology development and reversed some effects of existing disease.
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.