Articles tagged with Congenital Heart Disease
Researchers have discovered a link between mutations in the MRTF-B gene and congenital heart disease in mice, which mimics human conditions such as truncus arteriosis. The study found that defects in cardiac neural crest cells lead to impaired blood vessel development and outflow tract defects.
A study published in Cell found that genetic defects in Nkx2-5 lead to progressive heart failure by degrading the electrical wiring of the heart, particularly the atrioventricular node. The researchers also identified a growth-factor gene called BMP-10 as a key contributor to this process.
Researchers have discovered a potential genetic risk factor for late-onset Alzheimer's disease on chromosome 10, linked to amyloid protein processing. The findings suggest that more than one gene may contribute to the development of late-onset AD, offering new hope for diagnosis and treatment.
Scientists at UCSF discovered a single defect in a protein causes severe auto-immune disease resembling lupus, affecting 100,000 people in the US. The finding provides evidence that lupus might be an inherited disease with a simple genetic root, rather than multiple genetic defects.
Scientists have discovered that mutant protein fragments selectively accumulate in the nuclei and axon terminals of neurons in the brain affected by Huntington's disease. This accumulation is thought to inhibit neurotransmitter release, causing the death of specific neurons.
Researchers at Children's Hospital of Philadelphia uncover the connection between chromosome 22's chemical structure and genetic diseases like +der(22) syndrome. They found unstable DNA sequences that can lead to translocations, increasing the risk of disease.
Researchers used a mouse model to identify changes occurring in nerve cells before the onset of Huntington's disease. They identified several signaling molecules that could be targeted for future therapies.
A recent study found that the genetic marker associated with periodontal disease in people of European heritage is barely present in Chinese populations. This suggests that oral hygiene habits, smoking, and other risk factors may be more important in explaining the high prevalence of periodontal disease in Chinese populations.
Researchers used embryonic stem cells to repair damaged nerve fibers in a rat model of Pelizaeus-Merzbacher disease. The study showed that transplanted cells can promote myelin sheath growth, potentially leading to improved function and clinical applications.
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.
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 have generated mice with human apoE3 or apoE4 genes, showing that apoE3 promotes nerve cell outgrowth while apoE4 does not. This study provides new insights into the biological effects of apoE variants and may offer a common mechanism for their adverse effects on neurodegenerative diseases.
Researchers found that a specific gene variant, e4, is linked to higher risk of intracerebral hemorrhages (ICH), a severe form of stroke, in African Americans. The study also revealed that these strokes occur at an earlier age in African Americans compared to whites.
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.
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.