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Gene Therapy For Color Blindness
Gene therapy for color blindness is an experimental gene therapy of the human retina aiming to grant typical trichromatic color vision to individuals with congenital color blindness by introducing typical alleles for opsin genes. Animal testing for gene therapy began in 2007 with a 2009 breakthrough in squirrel monkeys suggesting an imminent gene therapy in humans. While the research into gene therapy for red-green colorblindness has lagged since then, successful human trials are ongoing for achromatopsia. Congenital color vision deficiency affects upwards of 200 million people in the world, which represents a large demand for this gene therapy. Color Vision The retina of the human eye contains photoreceptive cells called cones that allow color vision. A normal trichromat possesses three different types of cones to distinguish different colors within the visible spectrum. The three types of cones are designated L, M, and S cones, each containing an opsin sensitive to a differe ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gene Therapy Of The Human Retina
Retinal gene therapy holds a promise in treating different forms of non-inherited and inherited blindness. In 2008, three independent research groups reported that patients with the rare genetic retinal disease Leber's congenital amaurosis had been successfully treated using gene therapy with adeno-associated virus (AAV). In all three studies, an AAV vector was used to deliver a functional copy of the RPE65 gene, which restored vision in children suffering from LCA. These results were widely seen as a success in the gene therapy field, and have generated excitement and momentum for AAV-mediated applications in retinal disease. In retinal gene therapy, the most widely used vectors for ocular gene delivery are based on adeno-associated virus. The great advantage in using adeno-associated virus for the gene therapy is that it poses minimal immune responses and mediates long-term transgene expression in a variety of retinal cell types. For example, tight junctions that form the blood-r ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Protanopia
Color blindness or color vision deficiency (CVD) is the decreased ability to see color or differences in color. It can impair tasks such as selecting ripe fruit, choosing clothing, and reading traffic lights. Color blindness may make some academic activities more difficult. However, issues are generally minor, and the colorblind automatically develop adaptations and coping mechanisms. People with total color blindness (achromatopsia) may also be uncomfortable in bright environments and have decreased visual acuity. The most common cause of color blindness is an inherited problem or variation in the functionality of one or more of the three classes of cone cells in the retina, which mediate color vision. The most common form is caused by a genetic disorder called congenital red–green color blindness. Males are more likely to be color blind than females, because the genes responsible for the most common forms of color blindness are on the X chromosome. Non-color-blind f ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
CDNA
In genetics, complementary DNA (cDNA) is DNA synthesized from a single-stranded RNA (e.g., messenger RNA (mRNA) or microRNA (miRNA)) template in a reaction catalyzed by the enzyme reverse transcriptase. cDNA is often used to express a specific protein in a cell that does not normally express that protein (i.e., heterologous expression), or to sequence or quantify mRNA molecules using DNA based methods (qPCR, RNA-seq). cDNA that codes for a specific protein can be transferred to a recipient cell for expression, often bacterial or yeast expression systems. cDNA is also generated to analyze transcriptomic profiles in bulk tissue, single cells, or single nuclei in assays such as microarrays, qPCR, and RNA-seq. cDNA is also produced naturally by retroviruses (such as HIV-1, HIV-2, simian immunodeficiency virus, etc.) and then integrated into the host's genome, where it creates a provirus. The term ''cDNA'' is also used, typically in a bioinformatics context, to refer to an mR ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Adeno-associated Virus
Adeno-associated viruses (AAV) are small viruses that infect humans and some other primate species. They belong to the genus ''Dependoparvovirus'', which in turn belongs to the family ''Parvoviridae''. They are small (approximately 26 nm in diameter) replication-defective, nonenveloped viruses and have linear single-stranded DNA (ssDNA) genome of approximately 4.8 kilobases (kb). AAV are not currently known to cause disease. The viruses cause a very mild immune response. Several additional features make AAV an attractive candidate for creating viral vectors for gene therapy, and for the creation of isogenic human disease models. Gene therapy vectors using AAV can infect both dividing and quiescent cells and persist in an extrachromosomal state without integrating into the genome of the host cell. In the native virus, however, integration of virally carried genes into the host genome does occur. Integration can be important for certain applications, but can also have unwan ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Visual Acuity
Visual acuity (VA) commonly refers to the clarity of vision, but technically rates an examinee's ability to recognize small details with precision. Visual acuity is dependent on optical and neural factors, i.e. (1) the sharpness of the retinal image within the eye, (2) the health and functioning of the retina, and (3) the sensitivity of the interpretative faculty of the brain. The most commonly referred visual acuity is the far acuity (e.g. 6/6 or 20/20 acuity), which describes the examinee's ability to recognize small details at a far distance, and is relevant to people with myopia; however, for people with hyperopia, the near acuity is used instead to describe the examinee's ability to recognize small details at a near distance. A common cause of low visual acuity is refractive error (ametropia), errors in how the light is refracted in the eyeball, and errors in how the retinal image is interpreted by the brain. The latter is the primary cause for low vision in people with a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Nystagmus
Nystagmus is a condition of involuntary (or voluntary, in some cases) eye movement. Infants can be born with it but more commonly acquire it in infancy or later in life. In many cases it may result in reduced or limited vision. Due to the involuntary movement of the eye, it has been called "dancing eyes". In normal eyesight, while the head rotates about an axis, distant visual images are sustained by rotating eyes in the opposite direction of the respective axis. The semicircular canals in the vestibule of the ear sense angular acceleration, and send signals to the nuclei for eye movement in the brain. From here, a signal is relayed to the extraocular muscles to allow one's gaze to fix on an object as the head moves. Nystagmus occurs when the semicircular canals are stimulated (e.g., by means of the caloric test, or by disease) while the head is stationary. The direction of ocular movement is related to the semicircular canal that is being stimulated. There are two key form ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Photophobia
Photophobia is a medical symptom of abnormal intolerance to visual perception of light. As a medical symptom photophobia is not a morbid fear or phobia, but an experience of discomfort or pain to the eyes due to light exposure or by presence of actual physical sensitivity of the eyes, though the term is sometimes additionally applied to abnormal or irrational fear of light such as heliophobia. The term ''photophobia'' comes from the Greek language, Greek φῶς (''phōs''), meaning "light", and φόβος (''phóbos''), meaning "fear". Causes Patients may develop photophobia as a result of several different medical conditions, related to the human eye, eye, the nervous system, genetic, or other causes. Photophobia may manifest itself in an increased response to light starting at any step in the visual system, such as: *Too much light entering the eye. Too much light can enter the eye if it is damaged, such as with corneal abrasion and retinal damage, or if its pupil(s) is unabl ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Scotopic Vision
In the study of human visual perception, scotopic vision (or scotopia) is the vision of the eye under low-light conditions. The term comes from Greek ''skotos'', meaning "darkness", and ''-opia'', meaning "a condition of sight". In the human eye, cone cells are nonfunctional in low visible light. Scotopic vision is produced exclusively through rod cells, which are most sensitive to wavelengths of around 498 nm (blue-green) and are insensitive to wavelengths longer than about 640 nm (red-orange). This condition is called the Purkinje effect. Retinal circuitry Of the two types of photoreceptor cells in the retina, rods dominate scotopic vision. This is caused by increased sensitivity of the photopigment molecule expressed in rods, as opposed to that in cones. Rods signal light increments to rod bipolar cells, which, unlike most bipolar cell types, do not form direct connections with retinal ganglion cells - the output neuron of the retina. Instead, two types of amacri ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Photopic Vision
Photopic vision is the vision of the eye under well-lit conditions (luminance levels from 10 to 108 cd/m2). In humans and many other animals, photopic vision allows color perception, mediated by cone cells, and a significantly higher visual acuity and temporal resolution than available with scotopic vision. The human eye uses three types of cones to sense light in three bands of color. The biological pigments of the cones have maximum absorption values at wavelengths of about 420 nm (blue), 534 nm (bluish-green), and 564 nm (yellowish-green). Their sensitivity ranges overlap to provide vision throughout the visible spectrum. The maximum efficacy is 683 lm/W at a wavelength of 555 nm (green). By definition, light at a frequency of hertz has a luminous efficacy of 683 lm/W. The wavelengths for when a person is in photopic vary with the intensity of light. For the blue-green region (500 nm), 50% of the light reaches the image point of the retina. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
GNAT2
Guanine nucleotide-binding protein G(t) subunit alpha-2 is a protein that in humans is encoded by the ''GNAT2'' gene. Function Transducin is a 3-subunit guanine nucleotide-binding protein (G protein) which stimulates the coupling of rhodopsin and cGMP-phosphodiesterase during visual impulses. The transducin alpha subunits in rods and cones A cone is a three-dimensional geometric shape that tapers smoothly from a flat base (frequently, though not necessarily, circular) to a point called the apex or vertex. A cone is formed by a set of line segments, half-lines, or lines conn ... are encoded by separate genes. This gene encodes the alpha subunit in cones. References Further reading * * * * * * * * * * * * * * * * External links GeneReviews/NIH/NCBI/UW entry on Achromatopsia OMIM entries on Achromatopsia {{gene-1-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Blue Cone Monochromacy
Blue-cone monochromacy (BCM) is an inherited eye disease that causes severe color blindness, poor visual acuity, nystagmus and photophobia due to the absence of functional red (L) and green (M) cone photoreceptor cells in the retina. BCM is a recessive X-linked disease and almost exclusively affects males. Cause Cone cells are one kind of photoreceptor cell in the retina that are responsible for the photopic visual system and mediate color vision. The cones are categorized according to their spectral sensitivity: * LWS (long wave sensitive) cones are most sensitive to red light. * MWS (middle wave sensitive) cones are most sensitive to green light. * SWS (short wave sensitive) cones are most sensitive to blue light. MWS and LWS cones are most responsible for visual acuity as they are concentrated in the fovea centralis region of the retina, which constitutes the very center of the visual field. Blue-cone monochromacy is a severe condition in which the cones sensitive to red or g ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chimeric Gene
Chimeric genes (literally, made of parts from different sources) form through the combination of portions of two or more coding sequences to produce new genes. These mutations are distinct from fusion genes which merge whole gene sequences into a single reading frame and often retain their original functions. Formation Chimeric genes can form through several different means. Many chimeric genes form through errors in DNA replication or DNA repair so that pieces of two different genes are inadvertently combined.Rogers, RL, Bedford, T and Hartl DL. "Formation and Longevity of Chimeric and Duplicat Genes in ''Drosphila''". ''Genetics''. 181: 313-322. Chimeric genes can also form through retrotransposition where a retrotransposon accidentally copies the transcript of a gene and inserts it into the genome in a new location. Depending on where the new retrogene appears, it can recruit new exons to produce a chimeric gene. Finally, ectopic recombination, when there is an exchange ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
