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Created with Fabric.js 1.4.5 Norrie's Disease Norrie's Disease Tsering SkeeleFebruary 1st What is Norrie's Disease? How is Norrie's Disease inherited? Norrie's Disease is a rare X-Chromosome genetic disorder thatcauses males to either be completely blind at birth or become blind in both eyes at a young age.Norrie's disease runs in families as it is passed downthrough the X-chromosome, which determines the gender.There is a 50% chance of a carrier mother passingon the mutated X-chromosome to her children. A daughter may also receive the mutated geneif her mother is a carrier, however there is only a 50% chance of the daughter inheriting the mutated X-chromosome.If the daughter does inherit the Norrie gene, she will becomea carrier and have a 50% chance of passing the gene on to her own children. "Rare-diseases National Organization for Rare Disorders." Welcome to NORD National Organization for Rare Disorders. N.p., n.d. Web. 1 Feb. 2015. "Norrie's Disease." Scottish Sensory Centre. N.p., n.d. Web. 1 Feb. 2015"Norrie Disease." Genetics Home Reference. N.p., n.d. Web. 1 Feb. 2015. "Symptoms of Norrie Disease." - N.p., n.d. Web. 01 Feb. 2015."Norrie Disease Information | Norrie Disease Association." Home | Norrie Disease Association. N.p., n.d. Web. 1 Feb. 2015.Images"Canonical (beta-Catenin-Dependent) Wnt Signaling Image." Sino Biological Inc.( Antibody | Recombinant Protein | Influenza | ELISA | CDNA Gene ORF Clone). N.p., n.d. Web. 1 Feb. 2015. Sources Recurrent vitreous hemorrhagesBlindnessMass behind clear eye lensCataractCorneal opacificationShrunken eyeballRetinal malformationRetinal foldsDetached retinaDiabetesPupils appear white when light shone on themDevelopmental delay in motor skillsDelayed walkingDelayed sitting upPsychosis Norrie disease is an inherited eye disorder thatleads to blindness in male infants at birth or soonafter birth. It causes abnormal development ofthe retina, the layer of sensory cellsthat detect light and color, with masses ofimmature retinal cells accumulating at the backof the eye. As a result, the pupils appear whitewhen light is shone on them, a sign called leukocoria. Symptoms The protein called Norrin (Ligand) attachesitself to the receptor called frizzled-4 which is located on theouter membrane of the cells.Once the protein attaches itself onto the receptor, a pathway called WnT or Beta-Catenin signaling is activated.Once the pathway is activatedit activates the dishevelled proteinwhich then inhibits the GSK-3 beta. The GSK-3 beta tends to phosphorylate,while destroying the Beta-Catenin. However, the GSK is being inhibitedwithin the cell, allowing more Beta-Cateninto enter the nucleus. Finally, the Beta-Cateninbinds itself to the Tcf and Lef in the nucleus,which helps promote target cells. Current Research Graphics of Pathway How It Works As of now there is no cure forNorrie's Disease, but there is researchbeing pursued in order to better understandthe disease.Currently, eye surgery and lasertherapy are the two most prominent ways to treat the blindness. Hearing aids and implants to treat the deafness, and counseling and medication for the behavioral disorders.A possible method that's being workedon is developing lenses that wouldprovide the eye with a constant supplyof something (possibly norrin) tohelp activate the WnT/Beta-Cateninsignaling pathway. Faulty Mechanism:The Norrin that is created isdefected, disabling it toattach itself to the frizzled-4receptor which results in thepathway being unactivated.The dishevelled protein isthen unable to activate,making it unable to inhibitthe GSK-3 beta.Finally this results in theBeta-Catenin getting destroyedby the GSK-3 beta. Due to this,the Beta-Catenin isn't able to reach the nucleus, which consequentlyleads to the inactivation of the NDPGene.
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