Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0086543 (cataract)
 29,165 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This paper reviews recent findings on the implication of nutritional and genetic factors in age-related eye diseases: age-related macular degeneration (AMD; a degenerative disease of the retina) and cataract (opacification of the lens). Because of direct exposure to light, the eye is particularly sensitive to oxidative stress. Antioxidants, such as vitamin E, C or zinc, clearly have a protective effect in AMD and probably in cataract. In addition, two carotenoids, lutein and zeaxanthin, may play a more specific role in the eye: they accumulate in the retina, where they form the macular pigment, and in the lens. Their role is probably to filter out phototoxic blue light and to quench singlet oxygen. Finally, docosahexaenoic acid (an omega-3 polyunsaturated fatty acid) is particularly important for the retina, where it exerts structural, functional and protective actions. Besides, these diseases are strongly influenced by genetics, as demonstrated by familial and twin studies. The apolipoprotein E4 allele is associated with a reduced risk of AMD, while an association of AMD with complement factor H polymorphism has recently been demonstrated. Nutrigenomics, by studying the interactions between genetic variability and nutritional factors, represents a new challenge in order to account for interindividual variations in disease susceptibility. Such potential interactions are presented.
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PMID:Application of nutrigenomics in eye health. 1768 13

Age-related macular degeneration (AMD) is a complex multifactorial condition involving multiple genetic, environmental and constitutional factors. Inflammation, oxidative stress and lipid metabolism seem to be the most important factors in the pathogenesis of the disease. The importance of genetic factors has mainly been revealed with the influence of histocompatibility complement factor H (CFH) variations and the ARSM2 susceptibility gene. Another component, epigenetics, could help to explain some of the relationships between environmental and genetic factors. Epigenetics is defined as the study of modulations of gene activity that can be transmitted over cell divisions without involving mutation of the DNA sequence. The molecules that are involved in these mechanisms are referred to as the epigenome. The mechanisms involve DNA methylation, histone modification, chromatin remodeling, and gene inhibition by non-coding RNA. Epigenetics could explain how the environment may induce relatively stable changes in traits or even diseases, possibly inheritable over several generations. Epigenetic traits established during development, and/or acquired under the influence of nutritional factors or other environmental factors, could influence the interactions between genes and the environment. Several authors have recently shown the influence of epigenetic factors in the pathogenesis of ocular diseases such as cataract, dry eye, glaucoma, diabetic retinopathy and more recently AMD. A better understanding of the involvement of genetic variants at risk, their relationship with epigenetics and environmental factors would certainly help to better assess the risk of developing AMD or better understand recent changes in the incidence of the disease.
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PMID:[Epigenetics in age-related macular degeneration (AMD) - French translation of the article]. 3045 59

Age-related Macular Degeneration (AMD) is a complex multifactorial condition involving multiple genetic, environmental and constitutional factors. Inflammation, oxidative stress and lipid metabolism seem to be the most important factors in the pathogenesis of the disease. The importance of genetic factors has mainly been revealed with the influence of histocompatibility complement factor H (CFH) variations and the ARSM2 susceptibility gene. Another component, epigenetics, could help to explain some of the relationships between environmental and genetic factors. Epigenetics is defined as the study of modulations of gene activity that can be transmitted over cell divisions without involving mutation of the DNA sequence. The molecules that are involved in these mechanisms are referred to as the epigenome. The mechanisms involve DNA methylation, histone modification, chromatin remodeling, and gene inhibition by non-coding RNA. Epigenetics could explain how the environment may induce relatively stable changes in traits or even diseases, possibly inheritable over several generations. Epigenetic traits established during development, and/or acquired under the influence of nutritional factors or other environmental factors, could influence the interactions between genes and the environment. Several authors have recently shown the influence of epigenetic factors in the pathogenesis of ocular diseases such as cataract, dry eye, glaucoma, diabetic retinopathy and more recently AMD. A better understanding of the involvement of genetic variants at risk, their relationship with epigenetics and environmental factors would certainly help to better assess the risk of developing AMD or better understand recent changes in the incidence of the disease.
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PMID:Epigenetics in Age-related Macular Degeneration (AMD). 3045 25