Retinoblastoma Cancer Study Assignment

Added on - 21 Apr 2020

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Running head: RETINOBLASTOMARetinoblastomaName of the StudentName of the UniversityAuthor Note
1RETINOBLASTOMAAbstractRetinoblastoma is an intraocular cancer that is caused by the loss of either single or both thecopies of Rb gene. Retinoblastoma (Rb)protein was first identified as the product of theprototypetumour-suppressor gene (RB).The loss of the normal function of the RB genearising out of the mutation is associated with the disease retinoblastoma, which is hereditaryin nature.The disease primarily affects children who are below 5 years of age. Rb gene isnormally involved in the cell cycle progression and faults in the phosphorylation leads to thetumour development.Retinoblastoma is extracted from the cells, which are fromneuroectodermal origin and is present in the inner layer of the optic cup. The tumour usuallygrows toward the subretinal space or vitreous via forming a multilobulated white mass.At present treatment of retinoblastoma leads to either enucleation or chemotherapy orcryotherapy. However, latest research is being carried out to elucidate novel therapeuticapproach.
2RETINOBLASTOMATable of ContentsBackground of the disorder........................................................................................................3Current knowledge of inheritance pattern..................................................................................3Pathology....................................................................................................................................5Information on defective gene...................................................................................................6Normal role of wide-type protein...............................................................................................7Signalling pathway of wild type protein....................................................................................8Defect in Rb1 gene and problem phenotype..............................................................................9Latest research..........................................................................................................................10Treatment management........................................................................................................11Future therapies....................................................................................................................12Conclusion................................................................................................................................12References................................................................................................................................14
3RETINOBLASTOMABackground of the disorderRetinoblastoma (Rb)protein was first identified as the product of the prototypetumour-suppressor gene (RB). The proteins arising out of the tumour-suppressor genesfunction in different ways. This inhibits the faulty progression through the cell cycle. The lossof the normal function of the RB gene arising out of the mutation is associated with thedisease retinoblastoma, which is hereditary in nature. A child suffering from retinoblastomainherits one normal RB+ allele from one parent and another mutant allele, RB- from anotherparent. If the RB+ allele is mutated to RB- allele, then the functional protein is not expressedand the cell becomes cancerous. This mutation from RB+ to RB- occurs in the retinal cells,leading to the formation of the retinal tumours and thus the name of the disease,retinoblastoma. The mutation or the inactivation of RB gene occurs via phosphorylation(Alberts et al. 2013).Current knowledge of inheritance patternA hereditary predisposition for certain types of cancers is prevalent among theindividuals who are suffering from inherited mutations in the tumour suppressor genes.Susceptible individuals inherit germ-line mutation in a single allele of one gene and thesomatic mutation in the corresponding allele promotes tumour progression. Retinoblastoma isthe first tumour suppressor gene identified in the signalling pathway. It is a classic case ofloss of function of the RB gene. Children who are suffering fromhereditary retinoblastomainherit a single copy of the defective gene RB from one parent. Defects in the retinoblastomaarise out of the deletion in the one of the gene residing in chromosome 13. The childrensuffering from hereditary retinoblastoma develop retinal tumours in both the eyes during theearly stages of life, leading to blindness. Individuals who are suffering from thesporadicretinoblastomainherit two normal RB alleles from both the parents. This normal allele
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