What disorder is MYO7A?
What disorder is MYO7A?
MYO7A-related disorders are an inherited group of conditions associated with hearing loss with or without vision loss. This group of disorders does not affect intelligence or cause any other primary health problems. MYO7A-related disorders are caused by harmful changes, or mutations, in the MYO7A gene.
What causes Usher syndrome?
What causes Usher syndrome? Usher syndrome is an inherited condition. You get it through mutated (changed) genes your parents carry. The condition is a recessive disorder, meaning you have to inherit copies of the mutated gene from each parent.
What is Usher syndrome?
Usher syndrome is a disorder that is passed down through families (inherited). A syndrome is a group of symptoms that happen together. Usher syndrome involves both hearing loss and vision loss. The hearing loss may be mild to complete. The vision problem is called retinitis pigmentosa.
What is myosin VIIA?
Myosin VIIA probably plays a role in the development and maintenance of this tissue, which supports and nourishes the retina. Research suggests that one function of myosin VIIA is to carry small sacs of pigment (called melanosomes) within the RPE. This pigment is necessary for normal vision.
What is SAR421869?
Usher Syndrome Retinitis Pigmentosa. Drug: SAR421869. Phase 1 Phase 2. Detailed Description: Following screening procedures, the gene transfer agent were injected once only under the retina by an opthalmic surgeon under anesthesia.
Who gets Usher syndrome?
Usher syndrome affects approximately 4 to 17 per 100,000 people,1,2 and accounts for about 50 percent of all hereditary deaf-blindness cases. The condition is thought to account for 3 to 6 percent of all children who are deaf, and another 3 to 6 percent of children who are hard-of-hearing.
Is Usher syndrome a rare disease?
Usher syndrome is a rare genetic disorder primarily characterized by deafness due to an impaired ability of the inner ear and auditory nerves to transmit sensory (sound) input to the brain (sensorineual hearing loss) accompanied by retinitis pigmentosa, a disorder that affects the retina and causes progressive loss of …
What is Type 3 Usher syndrome?
Type 3 – is the rarest form of Usher syndrome. It occurs with higher frequency in individuals of Ashkenazi Jewish and Finnish heritage. Children usually have normal hearing and vision at birth, then develop hearing loss and RP in adolescence or later. Hearing can deteriorate steadily over ten or fifteen years.
What is myosin made of?
Domains. Most myosin molecules are composed of a head, neck, and tail domain. The head domain binds the filamentous actin, and uses ATP hydrolysis to generate force and to “walk” along the filament towards the barbed (+) end (with the exception of myosin VI, which moves towards the pointed (-) end).
What type of myosin is used in the ear?
In summary, myosin XVa is localized precisely to the tips of inner ear hair cell stereocilia and is critical for their graded elongation during formation of the staircase arrangement of mammalian hair bundles.
Who discovered Usher syndrome?
Usher syndrome was first described in 1858 by Albrecht Von Graefe, but was named for Charles Usher, a Scottish eye doctor who identified the disorder’s hereditary nature and recessive inheritance pattern.
What is UshStat?
UshStat® is an EIAV-based lentiviral vector expressing Myosin VIIa encoded by the USH1B gene. In UshStat® this gene is expressed by the constitutive CMV promoter so Myosin VIIa is produced mainly in the RPE and photoreceptor (PR) cells.