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Such a gene that exhibits multiple phenotypic expression is called a pleiotropic gene. Mutation in a pleiotropic gene may have an effect on several traits simultaneously, due to the gene coding for a product used by a myriad of cells or different targets that have the same signaling function.
The goal of gene therapy studies is to virally supplement retinal cells expressing mutant genes associated with the retinitis pigmentosa phenotype with healthy forms of the gene; thus, allowing the repair and proper functioning of retinal photoreceptor cells in response to the instructions associated with the inserted healthy gene.
The retina (from Latin rete 'net'; pl. retinae or retinas) is the innermost, light-sensitive layer of tissue of the eye of most vertebrates and some molluscs.The optics of the eye create a focused two-dimensional image of the visual world on the retina, which then processes that image within the retina and sends nerve impulses along the optic nerve to the visual cortex to create visual perception.
Rhodopsin, also known as visual purple, is a protein encoded by the RHO gene [5] and a G-protein-coupled receptor (GPCR). It is a light-sensitive receptor protein that triggers visual phototransduction in rods. Rhodopsin mediates dim light vision and thus is extremely sensitive to light. [6] When rhodopsin is exposed to light, it immediately ...
Leber's hereditary optic neuropathy (LHON) is a mitochondrially inherited (transmitted from mother to offspring) degeneration of retinal ganglion cells (RGCs) and their axons that leads to an acute or subacute loss of central vision; it predominantly affects adult males, and onset is more likely in younger adults.
Gene therapy is designed to insert a copy of a corrected gene into retinal cells. The hope is to return cell function back to normal and the treatment has the potential to stop disease progression. This therapy will not restore impaired vision back to normal. The research is being undertaken by a partnership between Sanofi and Oxford BioMedica.
The reason boils down to genes. A senior lecturer in biomolecular sciences at Liverpool John Moores University said, "What we know now is that eye color is based on 12 to 13 individual variations ...
A photoreceptor cell is a specialized type of neuroepithelial cell found in the retina that is capable of visual phototransduction.The great biological importance of photoreceptors is that they convert light (visible electromagnetic radiation) into signals that can stimulate biological processes.