Articles tagged with Muscle Diseases
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Researchers identified Pin1, an enzyme that may restore tau protein function, and found it depleted in Alzheimer's brains. This could lead to new treatments for the disease by preventing tau protein misfolding.
Researchers found elevated TGase activity in postmortem brain tissue of HD patients, linking it to htt aggregation and nuclear inclusion formation. This novel finding appears to counter previous findings on amyloid protein deposits and the 'protein zipper' hypothesis.
A recent study by Brown University researchers has found a link between agrin protein and Alzheimer's disease plaques. The protein, involved in nervous system development, may play a role in the disease's progression.
Researchers have discovered naturally occurring enzymes that can detoxify porphyrins, building blocks of haemoglobin, in a potential breakthrough for treating variegate porphyria. This rare disorder was passed down through the royal family, including Queen Elizabeth II's first cousin Prince William of Gloucester.
Dr. Stefan-M. Pulst will present five scientific sessions on spinocerebellar ataxia and a new brain tumor-discovery, expanding treatment options for neurodegenerative diseases. His team mapped a new gene SCA10 to chromosome 22, causing loss of gait and limb control.
Researchers have identified three types of oral bacteria most likely to increase the risk of heart disease: B. forsythus, P. gingivalis, and C. recta. These bacteria can contribute to plaque formation, narrow blood vessels, and induce platelet aggregation, increasing the risk of heart attack in persons with periodontal disease.
A Johns Hopkins-led study shows that many heart disease features are better explained by the body's responses to genetic damage rather than the damage itself. The research used a miniaturized catheter to compare healthy and diseased mouse hearts, revealing evolving adaptations that worsen symptoms over time.
A mercury poisoning illness known as Minamata disease has resurfaced in the Amazon rainforest, affecting thousands of people. The disease, which causes severe neurological damage, is linked to consumption of methyl mercury-contaminated fish.
Researchers discovered the exact cellular site where the leprosy-causing bacterium attacks peripheral nerves. The findings point to a way of treating leprosy in its early stages and have tremendous ramifications for understanding nerve damage in other neurodegenerative diseases like muscular dystrophy and multiple sclerosis.
Scientists have developed a novel gene therapy treatment that permanently blocks age-related loss of muscle size and strength in mice. The treatment increases muscle strength by up to 27% in older mice, fully restoring their strength to young adulthood.
The new guidelines provide recommendations for diagnosing and treating heart valve disease, covering common disorders such as mitral valve prolapse and aortic stenosis. It also addresses rare ailments, provides advice on evaluating and treating adults, teens, and pregnant women with defective valves.
Researchers at Virginia Tech will study the potential connection between pesticide exposure during the Persian Gulf War and an increased risk of developing Parkinson's Disease. The three-year project aims to investigate neurochemical changes in mice exposed to insecticides, which could provide insights into the disease.
A study linked three specific genes to the progress of Long QT syndrome, a heart-rhythm disorder that affects 25,000 Americans annually. Patients with defective genes can now expect their disease course, allowing for targeted treatments and improved outcomes.
A research team has identified a gene that causes two forms of muscular dystrophy, a genetic disease characterized by progressive weakness and deterioration of skeletal muscles. The discovery may lead to improved diagnosis and treatment options for patients with these disorders.
A University of Rochester team has developed a technology that provides the most thorough information yet on cells from the brains of deceased Alzheimer's patients, enabling comparison with healthy and sick cells. The study identified five genes whose expression differed significantly between healthy and Alzheimer's brains.
Scientists have created gene-altered mice that closely reproduce the clinical features of dilated cardiomyopathy, allowing for unprecedented study of early changes and development of new therapies. The model enables researchers to understand the causes and mechanism of the disease, ultimately aiming to develop more effective treatments.
A new study by Ohio University researcher Julie Suhr found that simple muscle relaxation techniques can help people with Alzheimer's disease control anxiety, aggression, and irritability. The techniques may also improve mental performance and reduce the need for psychotropic medication.
Researchers at Duke University Medical Center have developed a groundbreaking treatment for Pompe disease, a rare genetic muscle-wasting disorder. The injectable enzyme therapy has shown promise in improving muscle strength and reducing glycogen buildup in muscles, offering new hope for children born with the fatal condition.
Hopkins neurologist Jeffrey Rothstein's team finds 65% of ALS patients have mutations in EAAT2 protein, which could lead to early diagnosis and treatment. The new test aims to detect these mutations in cerebrospinal fluid to enable doctors to check for ALS at first sign of symptoms.
Researchers have identified a key to targeting retroviruses to specific cells, paving the way for precise gene therapy delivery. The high-resolution structure of the virus's envelope protein reveals a precise pattern of ridges and valleys that determines cell accessibility.
Scientists found that heart damage in Chagas' disease patients is due to the immune system's reaction to parasitic infections, contrary to previous thought. The study has significant implications for treatment and prevention strategies.
Researchers at Duke University have developed a genetically engineered enzyme treatment to address Pompe disease, a condition causing skeletal, heart, and lung muscle destruction. The new therapy will be tested in infants with the most severe symptoms first.
Researchers found that mice with the human gene Bcl-2, which protects against cell death, developed ALS significantly later and lived longer than those without. The study suggests that gene therapy could delay ALS onset and lead to the development of drugs mimicking protective genes.
Researchers have identified the genetic link to Griscelli disease, a rare autosomal recessive disorder characterized by partial albinism and immunologic abnormalities. The gene responsible for the condition is myosin-5a, which plays a crucial role in organelle transport within cells.
A $6.5-million study, the largest of its kind, aims to prevent deterioration in patients with Huntington's disease. The CARE-HD trial tests two treatments: experimental drug Remacemide and nutritional supplement CoQ10 to slow disease progression.
A transgenic mouse model of Huntington's disease has been developed, exhibiting symptoms resembling chorea and epileptic seizures. The R-6 strain is the first known mouse model to display these characteristics, allowing researchers to study the disease's progression.
A study published in Neurology has identified long-term exposure to copper and manganese as a significant risk factor for developing Parkinson's disease. The study found that occupational exposure to these metals, either alone or in combination with other metals like lead and iron, increased the risk of acquiring the disease.
A new study has identified a common functional problem in enlarged heart disease that causes sudden death in athletes, regardless of the genetic cause. This finding suggests that a single therapeutic approach may be effective for all victims of hypertrophic cardiomyopathy (HCM), a leading cause of sudden death in young adults.
Researchers at UT-Houston Institute of Molecular Medicine have discovered sentrin, a protein that protects cells from apoptosis by blocking Fas/APO-1 and TNFR receptors. This finding has significant implications for the diagnosis and treatment of cardiovascular diseases, cancer, and degenerative diseases such as arthritis and Alzheimer's.
Johns Hopkins researchers have identified two genetic mutations that may cause or contribute to nearly half of all non-inherited cases of ALS. The mutations involve a glutamate transporter protein, EAAT2, which normally deactivates and recycles glutamate, leading to increased paralysis and death in two to five years.
Researchers at Oregon Health Sciences University identify a new family of molecules regulating attention and cognitive functions. The SK channels play a prominent role in controlling cell firing and are expressed abundantly in brain regions responsible for cognition.
Scientists found a connection between triplet repeat genes and brain disorders like Huntington's disease, where proteins errantly stick to an enzyme crucial for energy production in brain cells. The discovery offers a potential treatment option by blocking protein interactions.