Compare and Contrast the Genes in Wilson`s disease and Achondroplasia
Compareand Contrast the Genes in Wilson’s disease and Achondroplasia
Thisdisease is an inherited disorder whereby excessive amounts of copperaccumulate in the brain, liver, and eyes (Kanel, 2017). The symptomsof the disease manifest first between the ages of 6 years to 45years, but most manifest in the adolescent years. They include acombination of neurological problems, liver disease, and psychiatricproblems (Kanel, 2017).
Themutation in the ATP7B gene causes the disease. The gene is vital asit gives instructions that lead to the production of the ATPase 2, acopper-transporting protein (Kanel, 2017). This protein isresponsible for transporting copper from the liver to other parts.Copper is vital for many cellular functions, but if left toaccumulate to significant amounts, it becomes toxic to the body(Kanel, 2017). Studies have indicated that normal variations in thePRNP gene may lead to the modification of the course of the disease.Most research has dwelled on the effects of the change of the PRNPgene that affects position 120 of the prion protein which is involvedin copper transport (Kanel, 2017). At this position, individuals withmutations appear to have either valine or methionine amino acid(Kanel, 2017).
Itis also referred to as dwarfism. The biggest problem inAchondroplasia is the failure of converting the formed cartilage intobone, especially the long bones of the legs and arms (Allgrove,2015). People suffering from this condition have a short staturecharacterized by short arms, short legs, average-size trunk, andmacrocephaly with a prominent head.
Themutations in the FGFR3 gene are responsible for the disease(Spranger, 2012). This gene is responsible for giving instructionsfor the production of the protein responsible the development andmaintenance of the brain and bone tissue (Spranger, 2012). Twospecific mutations of this gene play a role in almost all cases ofthis disease. Researchers believe that these variations make theFGFR3 to be overactive (Allgrove, 2015). This over activity leads tointerference with skeletal development.
Geneticmutations cause these two diseases. Wilson’s disease is aninherited rare autosomal recessive condition while Achondroplasia isinherited through an autosomal dominant pattern. Both these diseaseshave different signs and symptoms. Achondroplasia detection can occurbefore birth through ultrasound screening while Wilson’s diseasemanifests itself from the ages of 6 years to 45 years.
Allgrove,J. (2015). Calciumand bone disorders in children and adolescents.Basel: Karger.
Kanel,G. C. (2017). Pathologyof liver diseases.Hoboken, NJ: John Wiley & Sons, Inc.
Spranger,J. W. (2012). Bonedysplasias: an atlas of genetic disorders of skeletal development.New York: Oxford University Press.
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