This gene can cause vision loss in middle-age
According to researchers, chemical changes in the eye can lead to blindness in middle-age.
Their findings aid understanding of a genetic condition that causes sight loss for one in 3,000 people.
The team examined how changes in a gene - known as RPGR - can damage eye cells to cause a disorder known as X-linked retinitis pigmentosa - a chronic hereditary eye disease characterized by black pigmentation and gradual degeneration of the retina.
The condition is incurable and affects night and peripheral vision before gradually causing blindness in middle age.
The team took skin samples from two patients and transformed stem cells - which can change into any cell type - into light-sensing eye cells known as photo-receptors.
They compared these with cells from healthy relatives of the patients.
Photoreceptors - which decay in retinitis pigmentosa patients - differed in their fundamental structure when compared with those from family members.
Follow-up studies in mice identified key molecules that interact with RPGR to maintain the structure of photoreceptors.
When RPGR is flawed, the structure is compromised and photoreceptors cannot function correctly, leading to sight loss.
Lead researcher said that by furthering the understanding of the RPGR gene and its effects on photoreceptor cells, they hope that these findings bring them closer to developing a possible treatment for this devastating disease.
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Their findings aid understanding of a genetic condition that causes sight loss for one in 3,000 people.
The team examined how changes in a gene - known as RPGR - can damage eye cells to cause a disorder known as X-linked retinitis pigmentosa - a chronic hereditary eye disease characterized by black pigmentation and gradual degeneration of the retina.
The condition is incurable and affects night and peripheral vision before gradually causing blindness in middle age.
The team took skin samples from two patients and transformed stem cells - which can change into any cell type - into light-sensing eye cells known as photo-receptors.
They compared these with cells from healthy relatives of the patients.
Photoreceptors - which decay in retinitis pigmentosa patients - differed in their fundamental structure when compared with those from family members.
Follow-up studies in mice identified key molecules that interact with RPGR to maintain the structure of photoreceptors.
When RPGR is flawed, the structure is compromised and photoreceptors cannot function correctly, leading to sight loss.
Lead researcher said that by furthering the understanding of the RPGR gene and its effects on photoreceptor cells, they hope that these findings bring them closer to developing a possible treatment for this devastating disease.
THIS IS ONLY FOR INFORMATION, ALWAYS CONSULT YOU PHYSICIAN BEFORE HAVING ANY PARTICULAR FOOD/ MEDICATION/EXERCISE/OTHER REMEDIES.
PS- THOSE INTERESTED IN RECIPES ARE FREE TO VIEW MY BLOG- HTTP:GSEASYRECIPES.BLOGSPOT.COM/
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Labels: black pigmentation, blindness, chemical changes, chronic, damages, degeneration, eye cells, gene- RPGR, hereditary, middle age, photo-receptors, retina, retinitis pigmentosa (RP), vision loss
posted by G S Iyer at 10:45 PM
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