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A new approach opens the doors of gene therapy to other diseases with dominant inheritance, yet inherently difficult to treat in this way
An important step towards the prospect of a therapy for retinitis pigmentosa, the most common form of hereditary blindness, has been made thanks to the work of researchers at the Telethon Institute of Genetics and Medicine in Naples (Tigem), which report in an article published in EMBO Molecular Medicine
The group led by Enrico Maria Surace focused on those forms of the disease where you just get the defective gene from one parent (sick in turn) to develop the disease. “The diseases of this type, known as autosomal dominant, are very difficult to treat with gene therapy because the gene mutation that determines not the absence of a protein, but the presence of an abnormal protein and therefore toxic to the body. It does not help then give the patient a copy of the healthy gene: we must instead try to ‘turn off’ the bad one and this is much more difficult, “said Surace.
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The service of Ophthalmology Hospital Universitario Nuestra Senora de Candelaria (HUNSC) in Tenerife, serving nearly 40 patients suffering from retinitis pigmentosa, a disease that affects the retina and causes a progressive loss of vision that can cause blindness.
“Today is inherited eye disease has no specific treatment, hence the importance of custom track those who suffer, because only thus can prevent the disease appears in future generations,” say the directors of communication of HUNSC .
In the Canaries the Ministry of Health has a protocol on retinal dystrophies that applies specialized care centers and otalmologia queries of the four major public hospitals in the Canary Islands. The aim, progress in the diagnosis and follow up those who suffer this type of hereditary degenerative diseases.
Pedro Abreu, head of the Ophthalmology Hospital, says that studies allow to know “why people have this genetic defect and thus control their offspring.” A person may be carrying the gene that causes inherited retinitis pigmentosa but does not have to develop it. In this sense, “the disease can occur in youth or in later periods” and even, associated with deafness.
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In North America, millions of people suffer from disease affecting the retina of the eye such as retinitis pigmentosa or glaucoma. Although the causes of these diseases are different, they all cause death by apoptosis [1] cells of the retina, thus making the patient blind. There is currently no treatment to prevent blindness due to retinal diseases.
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An international scientific team led by Columbia University Medical Center (New York) has restored vision in mice suffering from retinitis pigmentosa, replacing diseased retinal cells from embryonic stem cells. This technique could lead to the development of a new treatment of retinitis pigmentosa or macular degeneration associated with age (AMD). The study is published in the journal “Transplantation”.
Retinitis pigmentosa are genetic diseases of the eye caused by abnormalities in the photoreceptor cells and pigment epithelium, responsible for vision. They are one cause of blindness, and affects between 3000 to 4000 U.S. and 1.5 million people worldwide.
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