Articles tagged with Muscle Diseases
Researchers have identified genetic factors that cause congenital myotonic dystrophy, a debilitating muscle disorder. They developed specialized mouse models to test potential drug therapies and found severe RNA misprocessing as a major cause of the disease.
A team from Kyoto University developed a synthetic compound that can bind to mitochondrial DNA, suppressing a gene associated with nerve and muscle disease. The compound, MITO-PIP, caused a 60% to 90% reduction in the expression of a key gene involved in mitochondrial metabolism.
Researchers have identified the genetic mutation MYMK as the cause of CFZS syndrome, a rare muscle disorder characterized by facial weakness and scoliosis. The discovery opens new avenues for diagnosis, treatment, and therapy development, including the use of CRISPR-Cas9 technology.
Researchers have identified a specific gene mutation in myopathy, a type of muscle disease, and found it plays an essential role in muscle fibre integrity. The study uses a zebrafish model to provide new insights into the genetic basis of the disease.
Scientists identify a new gene essential to the fusion of muscle stem cells and form functioning skeletal muscle tissues. The study's findings provide new avenues for cell therapy approaches in regenerative medicine.
Researchers at Texas A&M University have gained insights into STIM1's molecular determinants for calcium flux activation. The study reveals that the transmembrane, first coiled-coil, and cytosolic domains of STIM1 are crucial for controlling calcium entry into mammalian cells.
A new online database has been created to help clinicians and scientists better diagnose POLG disorders and predict their outcomes. The tool uses a mutation query interface to display cluster mapping of input mutations and show existing patient cases.
Washington State University researchers are studying mutations in three proteins that cause cardiomyopathy, a genetic heart condition affecting 1 in 500 people worldwide. The four-year project aims to improve diagnostics and develop new treatments for hereditary heart conditions.
A case study describes a patient with combined complex I+IV defect of the respiratory chain, manifesting as muscular respiratory insufficiency. The condition can also affect peripheral nerves, brain, heart, and extra-ocular muscles, requiring long-term mechanical ventilation.
Researchers discovered how mutations in VCP cause cellular damage in IBMPFD, and identified compounds that reverse its effects. The findings suggest potential strategies to combat IBMPFD and other degenerative diseases like ALS.
Duchenne muscular dystrophy affects 1 in 3,500 boys, stealing their ability to walk by age 12 and typically killing them by mid-20s. Researchers at UVA will use a multi-scale computer model to understand how muscle damage and inflammation drive the disease.
Researchers develop gene therapy to treat myotubular myopathy, a rare inherited disease causing fatal muscle wasting. A single infusion restores normal health in affected dogs, demonstrating potential for treating skeletal muscle disorders.
Researchers discovered that Huntington's disease affects muscle maturation, leading to disrupted skeletal muscle function and potentially improving motor symptoms. The study suggests targeting skeletal muscle tissue may provide a new opportunity to improve patient care.
Researchers used 3D electron microscopy to visualize collagen cables in skeletal muscle fibrosis, a roadblock to muscle recovery. Targeting these cables could provide treatments for conditions like muscular dystrophy, cerebral palsy, and age-related muscle loss, improving muscle function and reducing pain.
Research finds elevated myocardial inflammation in RA patients, with treatment showing potential to improve inflammation levels. Studies use advanced imaging techniques to detect and quantify heart inflammation, suggesting a link between joint and heart inflammation.
Scientists at Michigan State University have discovered a new target for treating Kennedy's disease by focusing on the role of genes in muscles. Contrary to previous beliefs, researchers found that the affected gene does not cause muscle fibers to lose connections with neurons, but rather appears broken and disorganized.
MSU scientists identified disrupted neuromuscular synaptic function as the underlying cause of motor dysfunction in spinal and bulbar muscular atrophy (SBMA). This discovery offers new avenues for gene therapy targeting muscle tissue.
A new drug, Arimoclomol, has shown promise against muscle wasting disease inclusion body myositis (IBM) by reversing key symptoms in mice and improving muscle strength. A patient safety trial also found the drug to be safe and well-tolerated.
Researchers present evidence that extended-release sialic acid supplement stabilizes muscle strength in patients with GNE myopathy, a rare progressive adult-onset muscle disease. Therapy with Ace-ER tablets led to dose-dependent increases in serum sialic acid levels and maintained muscle strength in upper extremities.
A $250,000 grant from the National Institute on Aging will help researchers at UTA and Ohio State University study the molecular mechanisms of muscle aging. The study aims to discover new ways to keep muscle function optimal during aging, potentially leading to treatments for age-related muscle loss.
Researchers from Brigham and Women's Hospital have developed a technique to grow large numbers of muscle cells in the lab, offering a better model for studying muscle diseases like muscular dystrophy. The new method involves mimicking early developmental cues to drive cells to grow into functional muscle fibers.
The TGen study identified over 50 rare disorders associated with muscle contractures and stiff joints in newborns. The researchers matched these conditions to specific genes on the X chromosome, offering potential therapies for diagnosis and treatment.
A recent study found that approximately 1 in 5,000 young boys in the US have either Duchenne or Becker muscular dystrophy. The disorders affect Hispanic boys more frequently than white or African-American boys. The research team's findings provide valuable information for healthcare professionals to better plan care for affected children.
Researchers at Duke University have successfully grown human skeletal muscle that contracts and responds like native tissue, enabling the testing of new drugs and study of diseases in functioning human muscle outside the body. The lab-grown tissue can also mimic clinical responses to various drugs.
A study of 68,765 STEMI patients found that 53% had non-IRA disease, significantly associated with increased 30-day mortality. The presence of non-IRA disease was consistent with findings from the KAMIR registry but not the Duke database.
MU researchers have catalogued the effects of abnormal enzymes responsible for one type of glycogen storage disease in humans. Their study, published in The Journal of Biological Chemistry, provides promising early-stage results that could aid in patient prognosis and therapeutic development.
Research reveals a new mechanism for proper sarcomere organization, controlled by protein cofilin-2 that trims actin filaments to precise lengths. This finding explains mutations in the cofilin-2 gene resulting in nemaline myopathy and highlights its importance in muscle function.
The American Academy of Neurology and the American Association of Neuromuscular & Electrodiagnostic Medicine have developed a new guideline for determining the specific subtype of limb-girdle or distal muscular dystrophy. This guideline is based on a thorough review of available studies and provides recommendations for evaluating sympt...
A new study published in the FASEB Journal reveals never-before-detected gene activity and sex differences in human skeletal muscle. The research found that men have approximately 400 more active genes than women, providing a reference for future studies on muscle disease and dysfunction.
Researchers at The Hebrew University of Jerusalem have discovered how circular RNAs are produced, finding they compete with normal RNAs for expression. The study suggests a link between circRNAs and degenerative diseases like muscular dystrophy and potentially brain disorders.
A new study published in Neurology suggests that group doctor visits can benefit individuals with muscle diseases, improving their quality of life. Participants who received group visits scored higher on a quality of life test compared to those who had individual appointments.
Researchers at the University of Helsinki found that vitamin B3 form, nicotinamide riboside, can delay the signs of mitochondrial myopathy in animal models. The treatment increased mitochondrial mass and function, curing structural abnormalities and providing a potential therapeutic approach for adult-onset mitochondrial muscle diseases.
Researchers at the University of Basel discovered that endurance sport improves both muscle condition and neuronal connections. By increasing PGC1α levels in muscles, athletes can enhance their nervous system's performance.
The Sunday Driver gene is implicated in regulating muscle tissue formation and maintenance, with mutations leading to inherited muscle diseases such as Emery-Dreifuss muscular dystrophy. Researchers found that the gene's product interacts with cortical factors to enable the motor protein Dynein to transport muscle nuclei into place.
Researchers have found that a plant pigment called quercetin could help prevent nerve damage associated with spinal muscular atrophy (SMA), a leading genetic cause of death in children. Quercetin was shown to significantly improve health of nerve and muscle cells in tests on zebrafish, flies, and mice.
Researchers have discovered a plant-based compound that targets the root cause of spinal muscular atrophy (SMA), a genetic disorder causing muscle wastage and weakness in infants. Quercetin has shown promise in tests on zebra fish, mice, and fruit flies, offering a potential treatment option for early stages of the disease.
Researchers have discovered a plant pigment called quercetin that targets the mutated gene causing spinal muscular atrophy (SMA), a leading genetic cause of death in children. Quercetin has been shown to improve nerve and muscle cell health in tests on zebra fish, mice, and fruit flies.
Researchers found that a plant pigment called quercetin could help prevent nerve damage associated with SMA. Quercetin treatment improved the health of nerve and muscle cells in zebrafish, flies, and mice.
A University of Arizona researcher has shown that genetic mutations in the titin gene can cause skeletal muscle myopathy, a disease characterized by muscle weakness. The study, published in the Journal of General Physiology, could be an important step in developing treatments for this condition.
Researchers at Kennedy Krieger Institute have successfully developed a humanized preclinical model for FSHD, mirroring gene expression and biomarker profiles of human tissue. The model enables the study of muscle regeneration over time and prediction of clinical response to therapeutic drugs.
Researchers found that increasing titin's stiffness can be a trigger for pathological changes in skeletal muscles. The team used a mouse model lacking nine titin Ig domains to investigate the effects of increased stiffness, revealing that this can lead to muscle atrophy and contractility changes.
Researchers discovered a new gene mutation linked to myopathy, which causes muscle weakness, movement problems, and learning difficulties. The discovery provides better understanding of the genetic causes of the condition and will enable clinicians to give individuals more precise diagnoses.
The study found that the Sunday Driver gene regulates myonuclear positioning and muscle function. Mutations in this gene lead to unevenly spaced nuclei and defective muscle contraction, indicating that mispositioned nuclei may be a possible cause, not consequence, of human congenital myopathies.
Researchers at McMaster University have identified a protein called Xin that serves as a biomarker for muscle damage. Xin is only detectable after muscle injury and shows a strong correlation with the degree of damage, regardless of the cause.
Scientists have identified a mutant gene responsible for Native American myopathy, a rare hereditary muscle disease. The discovery of the Stac3 gene may lead to the development of drugs to treat the condition and other related muscle diseases.
A study published in the Journal of the American Medical Association found that the generic drug mexiletine alleviates symptoms of nondystrophic myotonia, a rare muscle disease. Participants reported significant improvements in stiffness, pain, and everyday quality of life, with stiffness reduced by at least 40%.
A study found that mexiletine improved patient-reported stiffness and symptoms of myotonia in patients with nondystrophic myotonias, a rare genetic disorder. The medication was associated with significant improvements in quality of life scales and quantitative measures of myotonia.
Researchers at UCI have developed a genetically modified mouse model to study degenerative diseases like Lou Gehrig's, Paget's and dementia. The model will allow researchers to study disease progression in vivo and develop novel treatment strategies.
Researchers from Ruhr-University Bochum report that impaired protein degradation causes muscle diseases, including filaminopathies. The study found that protection mechanisms against abnormal protein deposits do not work properly in patients, opening up new avenues for therapies.
Researchers from IRCM, MIT, USC, and Illumina have made a significant breakthrough in the fight against muscular dystrophies, particularly myotonic dystrophy. The study provides insights into the role of muscleblind-like proteins in causing the disease and has potential applications for diagnostic tools and treatment.
A new cause of congenital myopathy has been identified through research published in the American Journal of Human Genetics. The discovery of a previously uncharacterized gene provides a genetic explanation for the disease and may lead to the development of therapies.
A new study reveals that myotonic dystrophy patients prioritize fatigue, mobility, and sleep problems over symptoms like myotonia, which are often considered hallmark symptoms. Researchers have developed a patient-reported outcome measure to better evaluate the impact of experimental therapies on patients' lives.
Researchers at UCLA have identified a new compound, RTC13, that effectively counteracts 'nonsense' mutations causing Duchenne muscular dystrophy. The compound was found to partially restore full-length dystrophin protein, improving muscle strength in mice.
Researchers discovered that mutated desmin proteins can aggregate with intact proteins of the same kind, leading to muscle diseases. This finding suggests that a single defective gene is enough to trigger the disease, as both malformed and normal proteins are incorporated into the aggregates.
Researchers at the University of Melbourne have discovered a potential treatment for Duchenne muscular dystrophy by increasing levels of heat shock protein 72 in muscles, improving muscle strength and slowing disease progression.
A new guideline from the American Academy of Neurology confirms IVIg as an effective treatment for Guillain-Barré syndrome and chronic inflammatory demyelinating polyneuropathy (CIDP). The therapy has been shown to be as effective as plasma exchange in treating GBS, with long-term use also helping to manage CIDP. Serious side effects a...
Researchers discovered that inhibiting the activity of Forkhead boxO proteins prevents muscle loss in cancer and sepsis, while promoting muscle growth in healthy control animals. This breakthrough offers new potential treatments for muscle-wasting diseases.
A research team has identified the genes and proteins that damage muscle cells in facioscapulohumeral muscular dystrophy (FSHD), a common form of inherited muscular dystrophy. The discovery could lead to a biomarker-based test for diagnosis, as well as future treatments.
Researchers may have unraveled the mystery of Elizabeth Barrett Browning's lifelong chronic illness, which shares symptoms with hypokalemic periodic paralysis. Her daughter's experience with the muscle disorder has provided a unique lens to view her letters and diary entries.
A health supplement commonly used by bodybuilders, L-tyrosine, has shown rapid and dramatic improvement in muscle wasting disease Nemaline Myopathy (NM) in laboratory tests on mice. Trials suggest it could also be effective for a range of other muscle-wasting diseases, offering new hope for treating children affected by the condition.