Skeletal muscle disease and vision deficits might seem unrelated, but a frog model of muscular dystrophy shows it is not such a leap.
Skeletal muscle disease and vision deficits might seem unrelated, but a frog model of muscular dystrophy shows it is not such a leap.
Facioscapulohumeral muscular dystrophy, or FSHD, is the world's third most common type of muscular dystrophy. It is characterized by progressive skeletal muscle weakening in the face, shoulders, and upper arms. Over half of FSHD patients (also known as Landouzy-Dejerine syndrome) also have abnormal blood vessels in the back of the eye, which can cause vision problems.
Muscular Dystrophy / Duchenne Muscular Dystrophy - Overview
Overview about muscular dystrophy, a muscle disease characterized by muscle weakness and muscle wasting.
Overview about muscular dystrophy, a muscle disease characterized by muscle weakness and muscle wasting.
Their report published in Disease Models & Mechanisms (DMM), describes how they examined the FRG1 gene in the frog and found the protein that it encodes for is highly expressed in blood vessels. Additional experiments show that normal FRG1 protein expression is important for blood vessel growth and organization.
Previous work linked aberrant FRG1 expression to the skeletal muscle defects of FSHD, and this study shows that FRG1 expression similarly contributes to abnormal blood vessel growth in the retina. Thus, the FSHD mutation, by affecting expression of the FRG1 gene may contribute to both the skeletal muscle and visual deficits associated with FSHD pathology. This study supports the idea that FRG1 expression is a main cause of this type of muscular dystrophy and might be an important target for therapeutic intervention.
About Myotonic Dystrophy
Detailed information on myotonic muscular dystrophy, a common form of muscular disease that affects adults and children.
Detailed information on myotonic muscular dystrophy, a common form of muscular disease that affects adults and children.
SRM
Researchers Have Successfully Used Gene Therapy To Treat Muscular Dystrophy
Researchers have safely transferred a gene to produce a protein necessary for healthy muscle fiber growth into three teenagers with limb-girdle muscular dystrophy.
Researchers have safely transferred a gene to produce a protein necessary for healthy muscle fiber growth into three teenagers with limb-girdle muscular dystrophy.
Canine Version of Muscular Dystrophy Treated With DNA Patches
Researchers have developed a new technique in which DNA patches are used to treat dogs with the canine version of Duchenne muscular dystrophy, a paralysing and often fatal disease of muscles.
Researchers have developed a new technique in which DNA patches are used to treat dogs with the canine version of Duchenne muscular dystrophy, a paralysing and often fatal disease of muscles.
