GENERIC 16968212

Statements in which the resource exists as a subject.
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lifeskim:mentions	umls-concept:C0035339, umls-concept:C0035647, umls-concept:C0234621, umls-concept:C0243067, umls-concept:C1314792, umls-concept:C1511572, umls-concept:C1611640
pubmed:dateCreated	2007-1-9
pubmed:abstractText	Absorption of a photon by an opsin pigment causes isomerization of the chromophore from 11-cis-retinaldehyde to all-trans-retinaldehyde. Regeneration of visual chromophore following light exposure is dependent on an enzyme pathway called the retinoid or visual cycle. Our understanding of this pathway has been greatly facilitated by the identification of disease-causing mutations in the genes coding for visual cycle enzymes. Defects in nearly every step of this pathway are responsible for human-inherited retinal dystrophies. These retinal dystrophies can be divided into two etiologic groups. One involves the impaired synthesis of visual chromophore. The second involves accumulation of cytotoxic products derived from all-trans-retinaldehyde. Gene therapy has been successfully used in animal models of these diseases to rescue the function of enzymes involved in chromophore regeneration, restoring vision. Dystrophies resulting from impaired chromophore synthesis can also be treated by supplementation with a chromophore analog. Dystrophies resulting from the accumulation of toxic pigments can be treated pharmacologically by inhibiting the visual cycle, or limiting the supply of vitamin A to the eyes. Recent progress in both areas provides hope that multiple inherited retinal diseases will soon be treated by pharmaceutical intervention.
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Statements in which the resource exists as a subject.

Predicate

Object

rdf:type

pubmed:Citation

lifeskim:mentions

umls-concept:C0035339, umls-concept:C0035647, umls-concept:C0234621, umls-concept:C0243067, umls-concept:C1314792, umls-concept:C1511572, umls-concept:C1611640

pubmed:dateCreated

2007-1-9

pubmed:abstractText

Absorption of a photon by an opsin pigment causes isomerization of the chromophore from 11-cis-retinaldehyde to all-trans-retinaldehyde. Regeneration of visual chromophore following light exposure is dependent on an enzyme pathway called the retinoid or visual cycle. Our understanding of this pathway has been greatly facilitated by the identification of disease-causing mutations in the genes coding for visual cycle enzymes. Defects in nearly every step of this pathway are responsible for human-inherited retinal dystrophies. These retinal dystrophies can be divided into two etiologic groups. One involves the impaired synthesis of visual chromophore. The second involves accumulation of cytotoxic products derived from all-trans-retinaldehyde. Gene therapy has been successfully used in animal models of these diseases to rescue the function of enzymes involved in chromophore regeneration, restoring vision. Dystrophies resulting from impaired chromophore synthesis can also be treated by supplementation with a chromophore analog. Dystrophies resulting from the accumulation of toxic pigments can be treated pharmacologically by inhibiting the visual cycle, or limiting the supply of vitamin A to the eyes. Recent progress in both areas provides hope that multiple inherited retinal diseases will soon be treated by pharmaceutical intervention.

pubmed:grant

http://linkedlifedata.com/resource/pubmed/grant/EY 015844, http://linkedlifedata.com/resource/pubmed/grant/EY 09339, http://linkedlifedata.com/resource/pubmed/grant/EY 11373, http://linkedlifedata.com/resource/pubmed/grant/EY 11713, http://linkedlifedata.com/resource/pubmed/grant/P30 EY011373-119005, http://linkedlifedata.com/resource/pubmed/grant/R01 EY009339-18, http://linkedlifedata.com/resource/pubmed/grant/R01 EY011713-14, http://linkedlifedata.com/resource/pubmed/grant/R01 EY011713-15

pubmed:commentsCorrections