31/08/2016

HistriadaDoenadeHuntington

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August31,2016

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Aviso:Estapginaumatraduoautomticadapginaoriginalemingls.Porfavornoteumavezque
astraduessogeradaspormquinas,notraduotudoserperfeita.Estesiteesuaspginasda
Webdestinamsealeremingls.QualquertraduodestesiteesuaspginasdaWebpodeser
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HistriadaDoenadeHuntington
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AdoenadeHuntingtonfoireconhecidacomoumadesordemparacentenasdeanos
masacausafoiestabelecidasomenterecentemente.Aolongodosanos,adoenade
Huntingtonfoinomeadadiferentemente,deacordocomoquefoicompreendidoda
circunstncia.OsTermosvariaramdacoreiaquerefereosmovimentos
espasmdicos,descontroladosqueocorrem,completamenteacoreiaprogressiva
crnica,quereflectiuocursoprogressivoobservadodadoena.
Amenoprimeiramentegravadadestadoenafoifeitaem1842,emumaletra
escritaporguasdeCharlesOscarepublicadanaprticadaMedicina.Em1846,
CharlesGormannotouqueadoenapareceuocorreremparticularregies.Em1860,
oCristoLunddeJohanigualmentedeuumadescriodadoena,emquenotouquea
demnciajuntocomdesordensdemovimentodeempurropareceuser
particularmentepredominanteemumareaisoladodeSetesdalenemNoruega.
Em1872,GeorgeHuntingtondeuaprimeiradescriocompletadadoenabaseadaem
seusestudosdediversasgeraesdeumafamliaquemexibiusintomassimilares.
Huntingtonesboouotestepadrodeanosdominantesautosomaldaheranaantes
queaheranaMendelianestveexplicada.
OSenhorWilliamOsler,queestavainteressadonacoreiaenasoutrasdesordensde
movimentonaqueletempo,foiimprimidopeladescriodeHuntingtonda
circunstncia.OinteressedeOslernadoenacombinadacomsuainfluncianocampo
mdicoajudouaconscinciadadoenadeHuntingtonacrescereparaofimdosculo
XIX,osrelatriosnacircunstnciatinhamsidopublicadosatravsdemuitospases,
comadoenaqueganhaoreconhecimentomundialcomoumproblemamdico.
Em1911,CharlesElizabethcomissoDavenportMunceyparaconduziroprimeiro
estudoparaconstruiraspedigreesdafamliadospovoscomdoenadeHuntingtonao
longodacostalestedoUneEstados.Usouentoosdadosrecolhidosparaexplicaras
idadesdiferentesdoincioeaescaladossintomasassociadoscomacircunstncia.
DavenportpopularizouaideiaqueamaioriadecasosdadoenadeHuntingtonno
UnemEstadospoderiamserseguidosdevoltaaumpunhadodeancestraldadoena.
ACompreensodadoenaavanadasobreasprximasdcadaseem1983,olugar
aproximadodeumgenecausalfoidescobertaemconseqnciadoProjectode
InvestigaoColaboradordaDoenadeHuntingtondaNosVenezuela.Em1993,o
gruporelatouolugarexactodogene,em4p16.3.Esteeraoprimeirolocusautosomal
dadoenaaserdescobertousandoaanlisedoenlace.
Em1996,oratotransgnicoestudaeoutrosmodelosanimaisdadoenaforam
desenvolvidoseem1997,osfragmentostransformadosdaprotenadohuntingtin
(mHTT)foramencontradosparamisfoldeasinclusesquenuclearescausamforam
descobertas.Estesresultadosconduziramaumacompreensoextensivadasprotenas
envolvidasnadoenadeHuntingtonassimcomopesquisamnasterapiaspotenciaise
namutaogenticaprprias.
RevistoporSallyRobertson,BSc

Fontes
1.http://www.nhs.uk/conditions/Huntingtonsdisease/Pages/Introduction.aspx
2.http://www.biomedcentral.com/content/pdf/17501172540.pdf
3.http://www.alz.org/dementia/huntingtonsdiseasesymptoms.asp
4.http://www.unm.edu/~atneel/shs531/Clinical_Review_HD.pdf
5.http://www.clinchem.org/content/49/10/1726.full.pdf
[LeituraAdicional:ADoenadeHuntington]
LastUpdated:Sep11,2014
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31/08/2016

HistriadaDoenadeHuntington

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