Kukho, okwamanje, akukho unyango lweZifo ze- Parkinson (PD). Kodwa inkqubela phambili enje yenzeke ekukhangekeni kwonyango. Kwiminyaka eyi-10 edluleyo okanye kunjalo, iintlobo ezininzi ze- PD ezizuzekileyo zifunyenwe kwaye iiphene ze-gene ezijongene nale fomu ziye zafunyanwa kwaye zafundwa. Ukufunyanwa kweentlobo zezifo zesifo kunokuthathwa njengentsebenzo ekufumaneni ukuphulukiswa kwipilisi yePP kuba izazinzulu zingasebenzisa iigenesi ekubhekiselele kuzo ukuba zifune izizathu ezingundoqo zesifo.
Kule rekhodi, iimpazamo zezofuzo ezibangelwa iifom ezifayo zesifo zibandakanya utshintsho (utshintsho kwi-chemical generalization of gene) okanye iziphumo zeengxenye zegeni kumbuzo. Iigesi eziphantsi kophando ziquka i-alpha-synuclein gene, i-ubiquitin-C-terminal hydrolase-L1 (UCH-L1), i-leucine-rich repat kinase (LRRK) 2 zegesi, kunye ne-Parkin, PINK1, DJ-1 kunye ne- I-ATPase13A2 zegesi.
Ngoku, ngokuqinisekileyo, onke la magama egama lentsholongwane angase afane nje nje ngezwi langaphandle. Kodwa ndikuqinisekisa ukuba ukufumanisa kwabo kuya kubakho inkqubela phambili ekufuneni unyango lwe-PD.
Ukulungisa Iintlobo zeeGenestiki ezingabangela izifo zeParkinson
Ngoku siyazi ukuba iintlobo ezithile zeempembelelo zofuzo kwiijethi ezithile zingabangela iPD. Oko kuthetha ukuba ukuba singakwazi ukulungisa iijeni ngokubhekiselele, sinokuthintela okanye sinokuphilisa eso sifo. Kukho umsebenzi kule ndawo sele sele ikhona iiprojekthi ezonwabisayo.
Le ndawo yonke yophando ibizwa ngokuba yi-gene orrapy. Okwangoku, ukungeniswa kwengqondo ye-rat (i-rat ewonakalise iiseli ze-dopamine) ye-ejenti yentsholongwane ebonisa iPark yoluntu kwi-rat model yePD yabangela ukukhuselwa kwilahleko ye-dopamine kunye nokuziphatha okufana no- Parkinson kwi-rat.
Kakade, ukubonisa ukuphucula kwiimodeli ze-rat kwindlela ende ekuboniseni ukuba into efanayo ingenzeka kwintliziyo yengqondo.
Indlela i-Genetic Malfunctions engabangela ngayo iifom zeHalinson's disease
Izifundo zeempazamo zofuzo ezibangelwa iifom zePD ziye zabonisa ukuba i-PD inokuphumela xa enye yeenkqubo iphela. Ezi nkqubo zigqibeleni zikhokelela kumonakalo weseli kwingqondo. Inkqubo yokuqala ibandakanya ukuphazamiseka kwenkqubo yokulawula umgangatho wokusingatha ukuveliswa kweprotheni kwingqondo. Iiprotheni ziyibhloko zokwakha zonke izicubu zomzimba wakho.
Ngoko ke xa inkqubo yokuvelisa iprotheni eyenza ihla, iziqu ezincinci zeeprotheni ezibangelwa kakubi ziqala ukuqokelela kwiiseli, kwaye kwimeko ye-alpha-synuclein, igalelo ekwakheni imizimba yaseLeyy . Iingcaphephe zophando ziqhubeka ziphanda indima yale mizimba yaseLewy ekuphuhlisweni kwesifo se-Parkinson, kodwa enye imbono ibonisa ukuba iprotein ye-aggregation iphazamisa ukusebenza ngokuqhelekileyo kweeseli kunye nokungasebenzi. Enye ingxaki ebangelwa yimpembelelo yemfuza ekhokelela kwiifom zePD ezikwaziyo i-mitochondrial ukungasebenzi. I-mitochondria inomzimba omncinane kwiiseli zakho ezijongene nokuvelisa amandla emzimbeni.
Ukuveliswa kwemisebenzi ye-mitochondrial kukuveliswa kwee-radicals zamahhala - iinqwelo-mzimba ezincinci ezingonakalisa iiseli ezivelisa i-dopamine. Xa i-mitochondria isebenza ngokuqhelekileyo, ezi zintlalo zamahhala ziyahlanjululwa kwaye zingasetshenziswanga. Kodwa xa i-mitochondria ingasebenzi ngokuqhelekileyo, ii-radicals zamahhala zakhiwa kwingqondo kunye nokulimaza iiseli ezivelisa i-dopamine.
Ekugqibeleni, iimpembelelo zomzimba ezikhokelela kwi-PD nazo zifunyenwe kwii-proteins okuthiwa i-kinase. Ezi proteins zinemisebenzi emininzi kwiseli, kwaye abaphandi bazama ukuqonda indlela ukuguqulwa kwemfuza kudala iP PD.
Imithombo:
UDenise M. Kay, uJennifer S. Montimurro kunye noHaydeh Payami. Genetics. Ku: Izifo ze-Parkinson: Ukuxilonga kunye noLawulo lwezonyango: Uluhlu lwesiBini oluhlelwe nguStewart A Factor, DO kunye noWilliam J Weiner, MD. 2008 iDemos Medical Publishing.
Andrew J. Lees, i-Parkinson chimera. Neurology 2009; 72; S2-S11; I-Mochizuki H. Gene unyango lwesifo sikaParkinson. Iingcali zeRev Neurother. 2007 Aug; 7 (8): 957-60.