Running head: WERNER SYNDROME
WernerSyndrome is rare, but it is among the common premature agingdisorders witnessed in humans. Dr. Werner identified ,and the disease affects roughly a million out of ten million people.The symptoms normally begin to show once an individual has reachedpuberty though at times, they do not manifest. Werner’s syndromeresults from the mutations of the WRN gene. Various mutations causethe condition[ CITATION JOs12 l 1033 ].WRN is vital in generating Werner protein in the body that is neededforrepairing and sustaining DNA.
WernerSyndrome is inherited as a recessive autosomal gene. Parents must becarriers although they do not show any symptoms. The condition islinked to inbreeding that manifests in more than one child at a time,more so if there are many children. If two people with the syndromedecide to have children, one out of four of the couple’s childrenwill have the . Nowadays, couples that arepredisposed to are offered prenatal screeningservices, although it is not a major concern for most couples becauseof its rarity. The WRN has the guidelines for making the Wernerprotein to repair the damaged DNA[ CITATION Cop13 l 1033 ].The Werner protein is crucial in keeping the integrity and structureof a DNA. Thereare over 60 mutations of the WRN gene causing . WRN isanother reason why many patients that suffer from the are susceptible to cancer. The gene leads to insufficient amounts ofWerner protein, causing cells to regenerate at a higher rate, leadingto possible development of tumors.
Thetypical symptoms of an early diagnosis include cataract formation inthe eyes, skin changes, development of ulcers, tightening of theskin, thin/gray hair, and reduction in height. There is a high chanceof a third cousin having similar symptoms. A patient’s urinary acidand serum levels rise and the first thought is always to visit adermatologist. The bigger problem however begins after a period often years. An individual can develop atherosclerosis or diabetesmellitus if immediate health care such as testing and screening isnot sought. Failure to receive treatment often leads toosteoporosis, which weakens the bones, hypogonadism, and intimacyproblems. For women, they may experience menopause early, lowfertility rate and in case of pregnancies, their babies riskcongenital deformity.
Patientswith live until they reach the second decade of theirlives. Some patients may not show any signs of the condition for theentire period. The WRN gene consists of 35 axons on chromosome 8 with1430 amino acids. At least 35 mutations have been recorded globally,and known mutations are similar to their intersections, codons, anddeletion that end up in a frame shift[ CITATION Ber10 l 1033 ].All mutations leadto truncation of local signals, and unlike the BLM gene, WernerSyndrome screening mutation can be seen in the future. In addition tothe loss of local nuclear signals in the WRN mutation, mRNAs andproteins have a relatively short life that lead to wild kind mRNp.Depending on the mutation, some WRNp mutations retain enzymes.
WRNdeficiency relates to low levels of dividing cells. Obtained dataimply that WRN deficient cells are injured during replicationelongation, but the harm depends on the magnitude of replicationstress. Even a short treatment using BrdU, Aphidicolin, and metabolicstarvation because of serum starvation can cause slight stress onreplication. Stress on replication can produce detectable WRN. Thereplication data highlights that WRN deficiency raises forkpopulation that stops prematurely.
Apartfrom being a purified and wild kind, WRNp to the vitro transcriptionstimulates RNA-dependent transcriptions done by nuclear extracts. Anon-helicase domain seems to play some part in transcriptionimprovement. The lack of stimulation of transcription in the WRNp isalso important. Insufficient transcription in cellscan be a main molecular defect that is responsible for the WernerSyndrome phenotype, unlike other transcriptions. Although WRN proteindoes not match transcription deficiency of nuclear,WRN protein highly stimulates RNA transcription.
WRNgene gives procedures for generating Werner protein that plays amajor part in reconstructing DNA that has been damaged. Wernerprotein works as an enzyme known as helicase that unwinds andseparates two DNA. The Werner protein assists in sustaining thestructure of a DNA and in copying DNA before the process of celldivision and transferring the data in genes to where proteins aremade begins. The interferes with DNA replication andrepair causing symptoms like height reduction, and tightening of theskin.
Geneticengineering refers to the process of modifying the traits of anorganism through the manipulation of its genetic material. Scientistsfrom Salk Institute, through genetic engineering, found out thatworsening of DNA bundles called heterochromatin causes geneticmutations linked to . A proper understanding of themutation process can assist in its treatment, and prevent thedisorder[ CITATION Pol15 l 1033 ].Thescientists wanted to determine how a mutated WRN could cause problemsto the cellular process. A vitro model of the Werner syndrome usinghuman embryonic stem cell was created. It was established thatchanging stem cells transformed the phenotype andstarted the aging process. Deletion of WRN caused the disruption inthe structure of heterochromatin.
WernerSyndrome is a disorder that causes premature aging because of DNAmutation. Some of the symptoms of WS are reduced height, skintightening, thin/gray hair, and ulcers. Progress has been made ineliminating WS through genetic engineering to slow down the agingprocess.
Andrew,P. (2015). GeneticEngineering.New York: New York Times.
Bernstein.(2010). TheRecQ DNA helicase in DNA repair.PMID.
Fabio,C. (2013). Theepidemiology of premature aging.Clinical interventions in aging.
Oshima,J. (2012). Wernersyndrome.Seattle: University of Washington.
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