Articles tagged with Dystrophy
Researchers at Baylor College of Medicine found that increased levels of CUGBP1 contribute to myotonic dystrophy type 1 by altering splicing patterns in heart and skeletal muscle. The study also reveals the involvement of another RNA-binding protein, MBNL1, in regulating gene expression.
Dr. Mani Mahadevan's research focuses on understanding the molecular mechanisms underlying DM1, a genetic disorder causing progressive muscle weakness and disability. His team has developed a mouse model to study toxic RNA production, which may lead to a viable treatment for the disease.
Scientists have mapped a common form of Fuchs corneal dystrophy to chromosome 18, shedding light on its genetic origins. The discovery has implications for developing gene therapies to treat the condition.
Researchers at the University of Virginia Health System have successfully reversed myotonic muscular dystrophy in mice by removing toxic RNA from muscle cells. The disease causes progressive muscle wasting and other symptoms in about 40,000 people worldwide.
Researchers used gene therapy to eliminate disabling muscle contractions in a mouse model of the most common form of adult-onset muscular dystrophy. The approach corrected myotonia, or muscle hyperexcitability, and eliminated muscle contractions as early as four weeks after injection.
Researchers have identified 141 distinct proteins in the healthy human cornea, including classical blood proteins and anti-angiogenic factors. This comprehensive protein study may lead to future therapeutics for various corneal disorders, improving clinical classifications and potentially generating artificial corneas for transplantation.
Researchers will pinpoint the genetic cause of Thiel-Behnke, a rare corneal dystrophy, using a $1.1 million NEI grant. The study aims to improve diagnosis and treatment options for other types of corneal dystrophies.
Researchers at the University of Minnesota developed a reliable diagnostic test for myotonic muscular dystrophy type 2 (DM2), revealing it occurs in many families of Northern European ancestry. The new test uses DNA amplification and verification to detect the disease, addressing difficulties in correct diagnosis.
Researchers pinpointed the gene on chromosome 3 that causes myotonic muscular dystrophy Type 2 (DM2), a complex disease affecting multiple systems. The discovery allows for the immediate development of a genetic test and paves the way for a more complete understanding and treatment of this form of muscular dystrophy.