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In this Special Issue of Genes entitled “Genetic Conditions Affecting the Skeleton: Congenital, Idiopathic Scoliosis and Arthrogryposis”, evidence is presented that suggests that congenital, idiopathic scoliosis, and arthrogryposis share similar overlapping, but also distinct, etiopathogenic mechanisms, including connective tissue and neuromuscular mechanisms. Congenital scoliosis (CS) is defined by the presence of an abnormal spinal curvature, due to an underlying vertebral bony malformation (VM). Idiopathic scoliosis (IS) is defined by the presence of an abnormal structural spinal curvature of ≥10 degrees in the sagittal plane, in the absence of an underlying VM. Arthrogryposis is defined by the presence of congenital contractures in two or more joints of the appendicular skeleton. All three conditions have complex genetic causes. This Special Issue highlights the complex nature of these conditions and current concepts in our approach to better understand their genetics.

Research & information: general --- Biology, life sciences --- Genetics (non-medical) --- spinal curvatures --- scoliosis --- idiopathic --- DNA methylation --- pyrosequencing --- estrogen receptor 1 --- ESR1 --- scoliosis progression --- adolescent idiopathic scoliosis --- idiopathic scoliosis --- exome sequencing --- spine --- polygenic --- variants --- musculoskeletal disease --- cytoskeleton --- extracellular matrix --- contracture --- arthrogryposis --- congenital --- POC5 --- cilia --- genetics --- spine deformity --- genetic predisposition --- complex trait --- model animal --- genome wide association study --- genetic linkage study --- Amyoplasia --- DECIPHER (DatabasE of genomiC variation and Phenotype in Humans using Ensemble Resources) --- CNV (copy number variant) --- DA (distal arthrogryposis) --- IPA (ingenuity pathway analysis) --- HPO (human phenotype ontology) --- akinesia --- MYOD --- IGF2 --- FGFR1 (Fibroblast growth factor receptor 1) --- genetic variations --- congenital scoliosis --- monozygotic twin --- epigenome-wide association study --- bone --- discordant --- curve severity --- differentially methylated region --- congenital vertebral malformation --- copy number variant --- CNV --- CHRNG --- distal arthrogryposis type 8 --- Escobar --- multiple pterygium syndrome --- MYH3 --- protein tyrosine kinase 7 (PTK7) --- whole exome sequencing --- n/a

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Blindness and visual impairment impact significantly on an individual’s physical and mental well-being. Loss of vision is a global health problem, with approximately 250 million of the world’s population currently living with vision loss, of which 36 million are classified as blind. Visual impairment is more frequent in the elderly, with cataract and age-related macular degeneration (AMD) accounting for over 50% of cases globally. Oxidative stress has been strongly implicated in the pathogenesis of both conditions, and consequently the role of nutritional factors, in particular carotenoids and micronutrient antioxidants, have been investigated as possible preventative or therapeutic strategies. Dry eye syndrome (DES) is one of the most common ophthalmic conditions in the world. DES occurs where the eye does not produce enough tears and/or the tears evaporate too quicklyleading to discomfort and varying degrees of visual disturbance. There has recently been a great deal of interest in the potential for oral or topical supplementation with essential fatty acids (EFAs), specifically omega-3 and omega-6 fatty acids, as an adjunct to conventional treatments for DES. The objective of this Special Issue on ‘Nutrition and Eye Health’ is to publish papers describing the role of nutrition in maintaining eye health and the use of nutritional interventions to prevent or treat ocular disease. A particular (but not exclusive) emphasis will be on papers (reviews and/or clinical or experimental studies) relating to cataract, AMD and DES.

polyphenols --- n/a --- crocin --- chyrsin --- glaucoma --- dietary assessment --- photoreceptor degeneration --- dry eye --- RR-zeaxanthin --- nutritional supplements --- drug discovery --- corneal neovascularization (CNV) --- AMD --- dietary antioxidants --- micronutrients --- age-related macular degeneration --- preclinical models --- lenses --- microvascular lesions --- cyclooxigenase-2 (COX-2) --- angiogenesis --- fish oil --- macrophage --- anti-oxidant --- vascular endothelial growth factor (VEGF) --- rosmarinic acid --- visual cycle --- diabetic retinopathy --- lutein --- gut-retina axis --- light damage --- crocetin --- supplements --- clinical practice guidelines --- nutrition --- light --- eye disease --- dietary habits --- flavonoids --- phytoconstituents --- saffron --- carotenoids --- fatty acid --- electroretinography --- lens --- advanced glycation end products --- interleukin-1? (IL-1?) --- mesozeaxanthin (RS zeaxanthin) --- endoplasmic reticulum stress --- omega-3 polyunsaturated fatty acids --- clinical survey --- corneal chemical burn --- reduced glutathione --- omega-3 --- AGREE II --- retina --- inflammation --- anti-inflammatory --- retinal pigment epithelium --- diet --- Lactobacillus paracasei KW3110 --- Crocus Sativus L. --- saponins --- cataract --- CODS --- neoangiogenesis --- estrogen-deficient rats --- food frequency questionnaire --- gut microbiota --- antioxidant supplements --- sinapic acid --- personalised medicine --- systematic reviews --- nuclear factor-kappaB (NF-?B) --- diabetes --- Cucurbita argyrosperma --- oxidative stress --- endoplasmic reticulum