Ho hlahlojoa ha liphatsa tsa lefutso ka lefu la Parkinson ho ka phetha karolo ea bohlokoa ho hlahlojoa
Ho hlahlojoa ha mafu ka har'a lefu la Parkinson ho ka phetha karolo ea bohlokoa ho hlahloba boloetse. Bo-rasaense ba na le tšepo ea hore tsebo e fanoang ke liphatsa tsa lefutso e tla qetella e fokotsa kapa e emisa tsoelo-pele ea eona.
Liphatsa tsa lefutso li nkoa ka DNA ea rona, likarolo tsa lefa tse khethollang litšobotsi tse fetisetsoang ho tloha motsoali ho ea ho ngoana. Re rua lipuo tse peli tsa limilione tse likete tse 3 ho bo-'mè le bo-ntate ba rona.
Ba etsa qeto ea 'mala oa mahlo a rōna, hore na re ba bolelele hakae' me, maemong a mang, re na le kotsing ea ho hlahisa mafu a mang.
Joaloka ngaka, ke tseba karolo eo liphatsa tsa lefutso li li etsang ho khetholla bophelo ba rona bo botle. Boemo ba tšusumetso ea hore liphatsa tsa rona tsa lefutso li fapane ho ea ka lefu lena, empa maemo a mabeli a tikoloho le liphatsa tsa lefutso li tlatsetsa ho nts'etsopele ea maloetse ho isa tekanyo e itseng.
Litlhahlobo tsa liphatsa tsa lefutso Lefung la Parkinson
Ka lefu la Parkinson, boholo ba linyeoe ke seo re se bitsang sporadic ha ho na sesosa se tsebahalang. Liketsahalo tsena "tse sa tloaelehileng" li bolela hore ha ho na litho tse ling tsa lelapa tse nang le Parkinson. Leha ho le joalo, hoo e batlang e le karolo ea 14 lekholong ea batho ba anngoeng ke Parkinson ba na le kamano ea pele (motsoali, ngoan'eno kapa ngoana) ea phelang le lefu lena. Litlalehong tsena tsa malapa, liphatsa tsa lefutso tse fetotsoeng tse bakang lefu lena li ka futsetsoa ka tsela e ikhethileng kapa e feteletseng.
Bengata ba bangata ba anngoeng melokong e sa tšoaneng hangata ba fumanoa malapeng a nang le liphatsa tsa lefutso tsa Parkinson. Mohlala oa mofuta ona oa lefa ke SNCA e fetohang liphatsa tsa lefutso e etsang hore ho be le protheine e bitsoang alpha-synuclein. Protheine ena e etsa lihlopha tsa Lewy tse fumanoang boko ba batho ba nang le Parkinson.
Liphetoho tse ling tse ling - LRRK2, VPS35, le EIF4G1 - le tsona li futsitse haholo.
Ka lehlakoreng le leng, liphetoho tse fetohang ka tsela e feteletseng tse nkang kotsing ea ho nts'ets'oa ha lefu la Parkinson li emeloa ke linyeoe tse ka har'a moloko o le mong joaloka banab'eno. Liphetoho tsa liphatsa tsa lefutso PARKIN, PINK1 le liphatsa tsa lefutso tsa DJ1 ke mehlala ea mofuta ona oa lefa.
Tsena ke tse ling tsa liphetoho tse tsejoang empa ho na le tse ngata tse fumanoang ka nako e tsoelang pele. Leha ho le joalo, hopola hore boholo ba liphatsa tsa lefutso bo na le litekanyetso tse tlase tsa polelo kapa phunyeletso eo ha e le hantle e bolelang hore feela hobane u na le liphatsa tsa lefutso ha ho bolele hore u tla fumana Parkinson. Esita le tabeng ea liphetoho tse ling tsa LRRK2, tse nang le matla a tlhaho, ho ba teng ha liphatsa tsa lefutso ha ho lumellane le tsoelo-pele ea lefu lena.
Ha Liteko Tsa Parkinson li Lokela ho Etsoa Neng?
Ngaka ea hau e ka 'na ea fana ka tlhahiso ea hore haeba Parkinson ea hau e tsebahala e sa le monyenyane (e ka tlaase ho lilemo tse 40), haeba beng ka uena ba bangata ba tlalehong ea lelapa la hau le bona ba na le ts'oaetso e le' ngoe, kapa haeba u le kotsing e kholo ea Parkinson ea lelapa ea hau. morabe (ba nang le masimo a Ashkenazi kapa a Afrika Leboea).
Leha ho le joalo, ho na le molemo ofe ho ba le teko e etsoang hona joale?
Boitsebiso bo ka 'na ba ba bohlokwa bakeng sa moralo oa malapa ho batho ba bang le hoja ke ne ke re esita le haeba liphatsa tsa lefutso li fetisetsoa ho tsona ha li lekane le tsoelo-pele ea lefu lena. Leha ho le joalo, kotsing ke ho fetoha ha liphatsa tsa lefutso tse ngata haholo, ka karolelano haeba motho a e-na le kamano ea pele le 'na le Parkinson (e leng motsoali kapa ngoan'eno) kotsi ea bona ea ho hlaolela lefu lena ke karolo ea 4 ho isa ho 9 lekholong ho feta batho ba bangata.
Hopola hore hona joale motho eo a lekoa, ha ho na phetoho ea kalafo ea lefu la Parkinson la hae le thehiloeng liphatsong tsa lefutso. Nakong e tlang, leha ho le joalo, ha ho na le mekhoa ea phekolo ea ho fokotsa ts'oaetso ea lefu lena kapa ho e thibela hore e se ke ea ntlafala ho hang, joale ho khetholla batho bao kotsing ho tla ba bohlokoa haholo.
Tlhahlobo ea Likokoana-hloko le Lipatlisiso tsa Parkinson
Le hoja ho ka 'na ha se ke ha e-ba le molemo o tobileng ho uena hona joale, liphello tsa ho hlahlojoa ha liphatsa tsa lefutso li ka thusa patlisiso e eketsehileng ea Parkinson ka ho lumella bo-rasaense hore ba utloisise hantle lefu lena' me kahoo ba hlahise phekolo e ncha. Ka mohlala, phetoho ea liphatsa tsa lefutso tse hlahisang protheine alpha-synuclein (SNCA) e isa mofuteng o itseng oa lefu la lelapa la Parkinson. Le hoja phetoho ena e lekana feela le palo e nyenyane ea linyeoe, tsebo ea phetoho ena e bile le liphello tse pharaletseng. Ho ithuta ka phetoho ena ea lefutso ho ile ha etsa hore ho fumanoe hore alpha-synuclein e kopana hammoho ho theha 'mele ea Lewy e' nileng ea fumanoa boko ba batho bohle ba nang le lefu la Parkinson eseng feela ba nang le phetoho ea SNCA. Ka hona, phetoho e 'ngoe ea liphatsa tsa lefutso e entse hore ho fumanoe ntho e boima ka ho fetisisa lipatlisisong tsa Parkinson.
Ho hlahlojoa ha liphatsa tsa lefutso ke qeto ea motho ka boeona empa e le temoso: nako leha e le efe hore liteko tsa liphatsa tsa lefutso li nkoa, haholo-holo boemong ba ho kula moo ho se nang phekolo ho latela mekhoa ea liphatsa tsa lefutso, e tla ba keletso ea ka ho bona moeletsi oa liphatsa tsa lefutso ho bua ka phello tlhahisoleseling ena e tla ba le mokuli le lelapa la hau ho uena.
Litlhahiso:
Beck, James, Ph.D. "Insights ea Parkinson: Tlhahlobo ea Liphatsa tsa Lefutso le Uena." Tsebo ea Parkinson: Tlhahlobo ea Liphatsa tsa Lefutso le Uena . Maloetse a Parkinson Foundation (PDF), 26 Mar. 2013. Websaete. 29 Mar. 2014. http://parkinsonsdiseasefoundation.blogspot.ca/2013/03/genetic-testing-and-you.html
Farrer, Matthew, MD. "Liphatsa tsa lefutso: Motheo oa Meriana ea Future Parkinson." - Parkingon's Disease Foundation (PDF) . Mafu a Parkinson's Foundation, Mariha 2012. Websaete. 29 Mar. 2014. http://www.pdf.org/winter12_genetics
Puschmann, Andreas. "Liphatsa tsa lefutso tsa Parkinson." Liphatsa tsa lefutso tsa Parkinson . Mokhatlo oa Europe Parkinson's Disease Association, ke Web. 29 Mar. 2014. http://www.epda.eu.com/en/parkinsons/life-with-parkinsons/part-3/genetics-of-parkinsons