Articles tagged with Metabolic Disorders
An international team identified an error in the cytochrome P450 oxidoreductase (POR) gene as the cause of aromatase deficiency, a rare metabolic disorder. This discovery enables precise therapy and prevents side effects associated with steroid supplementation.
Researchers have identified acid ceramidase as a key enzyme in the production of psychosine, a toxic glycolipid that accumulates in people with Krabbe disease. Removing or inhibiting this enzyme has been shown to decrease or eliminate psychosine production and disease symptoms.
A large-scale genome-wide association study identifies eight genetic variants associated with anorexia nervosa, suggesting a combination of metabolic and psychiatric components. The findings encourage considering metabolism in understanding the disorder's causes and improving treatment approaches.
A global genome-wide association study identified eight genetic variants linked to anorexia nervosa, revealing a complex interplay between metabolic and psychiatric factors. The research suggests that integrating metabolic information may help clinicians develop better treatment approaches for this potentially lethal illness.
A study by researchers at the CNIC reveals a new mechanism in intestinal bacteria regulation that prevents inflammation and promotes mutual benefit. The findings suggest that certain bacteria, such as Lactobacillus, strengthen the intestinal barrier through interaction with receptor Mincle.
Grickscheit aims to develop an 'off-the-shelf' stem cell-based therapy that might not require immunosuppression, a substantial step forward for metabolic liver disease. The UPLiFT investigation will test the effective dose and regimen of the therapy.
A new study found that longer daily fasting times improved health and longevity in male mice, with benefits seen across different diets and calorie consumption levels. The researchers also discovered that extended fasting periods enabled repair and maintenance mechanisms, which may help prevent age-related metabolic disorders.
Researchers report that tadpoles and adult female frogs exposed to endocrine disruptors develop metabolic disorders. Exposure leads to delayed metamorphosis, lower reproductive success, and smaller offspring.
Douglas Wallace receives the award for his pioneering work in mitochondrial genetics, leading to insights into human genealogy and implications for treating metabolic and degenerative diseases. The recognition acknowledges the crucial role of mitochondrial DNA genetics and bioenergetics in common disease etiology.
A study of over 189,000 initially healthy women found that working rotating night shifts for 5 years or more was associated with a small increase in coronary heart disease risk. The researchers also discovered waning risk after cessation of shift work and decreased risk among those who quit earlier.
A team of scientists discovered a molecular switch that regulates the body's circadian clock, allowing it to keep time. The 'phosphoswitch' maintains clock speed despite temperature changes and metabolic signals.
Individuals with sex development disorders face challenges forming positive relationships due to physical differences. Researchers suggest raising public awareness of the diverse nature of bodies and providing practical support mechanisms, such as private locker rooms and support groups.
A new review in Nutrition in Clinical Practice outlines main principles of chronic nutrition management of inherited metabolic disorders, highlighting failure to follow specific dietary treatment can lead to complications and death. Registered dietitians play a crucial role in the multi-disciplinary team delivering care to these patients.
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.
A comprehensive computer model of human metabolism has been developed, connecting the dots between the human genome and metabolism. The Recon 2 model advances understanding of human metabolism in health and disease, enabling identification of biomarkers and prediction of drug side effects.
Researchers at VIB and Oxyrane have created a new technology that produces enzymes for metabolic disorders like Pompe disease more efficiently than current treatments. The novel method uses yeast cells instead of mammalian cells, resulting in 17 times more efficient absorption by patient cells.
A team of researchers has discovered a genetic defect in the RMND1 gene linked to severe neurodegenerative disorders. The study reveals mutations in this gene can lead to early death in infants and has implications for understanding later-onset neurological diseases.
A new treatment for argininosuccinic aciduria (ASA) has been discovered through nitric oxide supplementation. The study found long-term heart and neuropsychological improvements in mice and humans afflicted with ASA, a genetic metabolic disorder that causes ammonia accumulation and liver and nervous system damage.
Researchers created a zebrafish model to study Maple Syrup Urine Disease, which causes brain injury and severe dystonia. The model reveals abnormal swimming behavior and neurotransmitter imbalances, shedding light on disease mechanisms.
A new test can identify biomarkers for mucopolysaccharidoses (MPS), a group of inherited metabolic disorders, allowing for earlier diagnosis and potentially more effective treatment. The test detects specific carbohydrate structures in cells, blood, and urine samples, enabling differentiation between forms of the disease.
Scientists have developed flies with genetic changes similar to those found in patients with galactosemia, allowing researchers to study the disease and develop potential treatments. These models can help understand how sugar metabolism leads to disease and open the door to novel drug discovery.
Researchers at Heidelberg University Hospital have discovered that the metabolic disease glutaric aciduria type I causes not only acute but also chronic toxic damage to the developing brain. Therapy should be extended to prevent long-term brain damage and should be started early, even before birth.
A study of 2,273 registered nurses found that adverse work schedules, including shift work, overtime, and on-call shifts, significantly impact sleep quality. Nurses with inadequate sleep experience increased risk of needlestick injuries and musculoskeletal disorders, as well as long-term health consequences.
A recent study has found that umbilical cord blood transplants can be a successful treatment option for children with inherited metabolic disorders, offering improved outcomes compared to bone marrow transplants. The procedure has shown advantages in terms of availability and reduced risk of complications.
Researchers have developed a new screening method to detect MCAD deficiency in newborns, reducing the number of undiagnosed cases. Early detection improves treatment options and reduces mortality rates, with one-quarter of patients dying before diagnosis is known.
Researchers conducted a retrospective study of 31 Dutch SCADD patients and their relatives to describe genetic, biochemical, and clinical characteristics. The study found a birth prevalence of at least 1:50,000, with developmental delay, epilepsy, and hypoglycemia being common symptoms.
Despite progress, most US babies are not fully covered under newborn screening programs. Currently, 23 states screen for over 20 disorders, while others have limited or no testing.
Researchers have identified two genes responsible for defects in vitamin B12 metabolism, which can lead to accumulation of methylmalonic acid. This breakthrough could enable DNA testing for carriers and early prenatal diagnosis, providing hope for families affected by the disease.
A new study calls for UK childhood screening of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, a metabolic disorder affecting up to 1 in 9000 people. The condition can be controlled with carbohydrate intake, but severe neurological damage occurs if diagnosed late.