MeganM.Cascio Biology Mr.Hill April4,2014 Progeria Progeriaisanextremelyraregeneticdisorderwhereachildlookslikeheorsheis growingabnormallyfast.Thisdiseaseissorarethatitsestimatedtoaffectonly1in8 millionlivebirths.Childrenbornwithprogeriausuallyonlylivetobeuptotheageof thirteen.Thesechildrennormallydontlivetoproducechildrenoftheirownwhichiswhy progeriaisntageneticdisorderpassedonthroughfamilies.Thegenechangeisusuallyin asinglespermoreggandoccursjustbeforeconception.Withneitherparentasacarrier, thechild'sgenesaredenovoornew.Progeriaisalsocommonlyknownas HutchinsonGilfordProgeriaSyndromeorHGPSforshort. Childrenbornwithprogeriausuallystartshowingsymptomswithinthefirstcoupleof monthsafterthebirth.

h.Oneoftheearlyfirstsymptomsiscalledsclerodermawhichisa buildupofscarliketissue.Othersymptomsincludehairloss,limitedgrowthandasmall face.Asthechildgrowsolder,thesesymptomsgrowmorenoticeable.Lateron,the symptomsincludewrinkledskin,hardeningofthearteries,kidneyfailure,eyesightlossand cardiovascularproblems.Childrenwiththissyndromealsogrowlarge,noticeablescalp veinsalongwithsmall,frailbodies.Musculoskeletaldegenerationisalsoalargeissuewith

peoplewhohaveprogeria,itcauseslossofbodyfatandmuscle,stiffjoints,hip dislocationsandotherinjuriesfoundwithelders. Unlikeotheragingdiseases,progeriaisn'tcausedbydefectiveDNA.Thecauseof progeriaiswhenafarnesylonaproteincalledprelaminadoesn'tdisconnectitself.This meanstheproteinisstuckonthenuclearringofthecell.Withoutthisfarnesyl,theprelamin turnsintolamina,bandc.Thesemakeupthenuclearlaminawhichprovidesthestructural supporttothenucleus.ThismutationendswithamutationintheLMNAgeneinwhichthe cytosineisreplacedwiththymine.ThismutationcausestheLMNAgenetostopgrowing tooearlywhichcreatesanabnormallyshortmRNAstrandwhichthrowsoutmanyvariants ofprelamina.Thiscausesthestructuralsupporttobecomeanawkwardshape.Because ofthisawkwardshape,thestructurebecomesweakandtheweaknessdoesn'tallowthe chromatintobereleasedduringmitosiswhichweakensthenuclearlamina.Thislimitsthe abilityofthecelltodivide. Only100childrenhaveprogeria.TwocasesI'vetakentoheartisayoung6yearold girlnamedAdaliaRoseandayoung17yearoldboywhorecentlydiednamedSamBerns. AdaliaRosewasfirst"discovered"ontheinternetbecausehermotherpostedvideosof herdancingtopopularpopculturesongs.Adaliaandhermothergotalotofhatebecause ofit.Adaliawascomparedtoanalienbecauseshelookeddifferentlyandhermotherwas criticizedwithherparentingbecausethepublicthoughtshewasexploitingherchild.Idon't knowifshewasusingAdaliaforfamebutshegotit.Adaliapostsmanyvideosonher

facebookpagewithherfullofloveandfunandlaughterbutmanypeoplehavetakenitto thenextlevel.Commentingonhervideosofherbeingachildtheysay"Killitwithfire",or "thisiswhatafailedabortionlookslike",someoneevenwenttotheextremeofstartinga rumorthatshehaddied.Shestillremainsafunlovinglittlegirldespitealltherudepeople intheworld.Theotherchild,SamBernswasanamazinglittleboy.Amovieairedcalled "LifeAccordingtoSam"anditwasabouthisjourney.Watchingthisyoungmanovercome thishorriblesyndromewasaninspiringandunforgettableexperience.Ofcoursehehas gottenalotofhateaswell,butjustasAdaliahas,helivedhislifetothefullest.Herecently passedawayduetocardiovascularproblemsandeventhoughhehaddiedhelived amazingly.Hepassedtheexpectedageof13andlived4extrayearsandheinspires peopleonadailybasis. Inconclusion,progeriaisaveryhorribleandrarediseasewhichcauseschildrento ageextremelyfast.A6yearoldchildcanlookandfeellikeshe's90,a17yearoldboy abouttograduatecanpassawayfromthis.Only100childrenhaveitintheentireworld, andmostdiewithin13yearofbeingborn.Allthoughtheyhaven'tfoundacureforitjustyet, progeriaresearchfundsarehelpingeverylittlebittheycan.Progeriaisn'tdirectlythrough familiessoanyonecouldbeatriskwithnowaytostopit.