Kukhona, okwamanje, akukho ukwelashwa kwezifo zikaPasinson (PD). Kodwa inqubekela phambili ephawulekayo iye yenzeke ekusakazeni ukwelashwa. Eminyakeni eyishumi edlule noma ngaphezulu, kuye kwafunyanwa izinhlobo eziningi ze- PD ezifuywayo futhi izifo ezingezansi zofuzo ezithintekayo kulezi zindlela ze-PD ziye zafundwa futhi zafundwa. Lokhu kutholakala kwezinhlobo zofuzo zesifo kungathathwa njengokutholakala kokuphumelela ekufuneni ukwelashwa kwe-PD ngoba ososayensi bangasebenzisa izakhi zofuzo ezibuzwayo ukuze bafune izimbangela zesifo.
Kule rekhodi, izifo ezingezakhi zofuzo ezibangelwa izinhlobo zezifo zalesi sifo zihlanganisa ukuguquguquka komzimba (ushintsho ekwenzeni amakhemikhali ezakhiweni) noma izimpendulo zezingxenye zegesi kulo mbuzo. Izakhi zofuzo eziphenywe zihlanganisa i-alpha-synuclein gene, i-ubiquitin-C-terminal hydrolase-L1 (UCH-L1) igesi, i-leucine-rich repat kinase (LRRK) 2 amagciwane, ne-Parkin, PINK1, DJ-1 kanye ne- I-ATPase13A2 izakhi zofuzo.
Manje-ke, wonke lawa magama wezakhi zofuzo angase azwakale njengelwimi olungenalutho kuwe. Kodwa ngiyanitshela ukuthi ukutholakala kwabo kuyoholela ekuthuthukeni okuphawulekayo ekufuneni ukwelashwa kwe-PD.
Ukulungisa Izifo ZaseGenesis ezingabangela izifo zikaParkinson
Manje siyazi ukuthi izinhlobo ezithile zokukhubazeka kwezakhi zofuzo emajenini athile zingabangela i-PD. Lokho kusho ukuthi uma singakwazi ukulungisa izakhi zofuzo ezibuzwayo, singavimbela noma kungenzeka siphulukise lesi sifo. Kube nomunye umsebenzi kule ndawo kakade futhi amanye amaphrojekthi amnandi aqhubekayo.
Le ndawo yonke yophenyo ibizwa ngokuthi i-gene therapy noma imithi yokwelapha. Kuze kube manje, isingeniso ebuchosheni besilwane (isilwane esonakalise amaseli e-dopamine) we-agent egazini eveza i-Park1 engumfanekiso wesilwane we-PD yabangela ukuvikelwa ekulahlekelweni kweli cell cell kanye nokuziphatha kukaParkinson okunjengokuziphatha kudoti.
Yiqiniso, ukukhombisa ukuthuthukiswa kwamamodeli we-rat kuyindlela ende ekuboniseni ukuthi into efanayo ingenzeka ebuchosheni bomuntu.
Indlela Ukukhubazeka Kwe-Genetic Kungabangela Izinhlobo ZamaHholo Ezifo ZasePasinson
Ucwaningo lweziphambeko zofuzo ezibangelwa amafomu we-PD ezivelele zibonisa ukuthi i-PD ingabangela uma omunye wezinqubo eziningi ehlehla. Lezi zinqubo ekugcineni ziholela ekulimaleni komakhalekhukhwini ebuchosheni. Inqubo yokuqala iphathelene nokuphazamiseka kwezinqubo zokulawulwa kwekhwalithi yokuphatha amaprotheni ukukhiqizwa ebuchosheni. Ama-protein yizona zakhi zokwakha zazo zonke izicubu emzimbeni wakho.
Ngakho lapho inqubo yokukhiqiza yokukhiqiza kwamaprotheni ihlehla, amaphuzu amancane amaprotheni aphethwe kabi aqala ukubuthelela emangqamuzaneni, futhi esimweni se-alpha-synuclein, igalelo ekwakheni imizimba yaseLeyyy . Ochwepheshe bezocwaningo basacwaninga indima yale mizimba yaseLewy ekuthuthukiseni isifo sikaParkinson, kodwa enye inkolelo ibonisa ukuthi amaprotheni aggregation aphazamisa ukusebenza okujwayelekile kwe-cell kanye nokungasebenzi kwemisebenzi. Enye inkinga ebangelwa ukukhubazeka kwezakhi zofuzo eziholela ezifweni ze-PD ezibizwa ngokuthi i-PD ziyaziwa ukuthi zikhona ukungasebenzi komzimba. I-mitochondria inamagciwane amancane amangqamuzana akho anesibopho sokukhiqiza amandla emzimbeni.
Ukukhiqizwa kwemisebenzi yama-mitochondrial ukukhiqizwa kwama-radicals mahhala - ama-molecule amancane angalimaza amangqamuzana akhiqiza i-dopamine. Lapho i-mitochondria isebenza ngendlela evamile, la ma-radicals yamahhala ahlaselwa futhi aphethwe amandla. Kodwa uma i-mitochondria ingasebenzi ngendlela evamile, ama-radicals mahhala akha engqondweni futhi awonakalise amaseli akhiqiza i-dopamine.
Ekugcineni, izifo ezithinta izakhi eziholela ku-PD zitholakale nasezintweni ezibizwa nge-kinase amaprotheni. Lawa maprotheni anemisebenzi eminingi esitokisini, kanti abacwaningi basalokhu bezama ukuqonda ukuthi isakhi soguquko senza kanjani i-PD.
Imithombo:
UDenise M. Kay, uJennifer S. Montimurro noHaydeh Payami. I-Genetics. Ku: Izifo zikaPacinson: Ukuxilongwa nokuPhathwa kweMitholampilo: UkuGcina kwesibili Kuhlelwe nguStewart A Factor, DO noWilliam J Weiner, MD. I-Demos Medical Publishing ka-2008.
U-Andrew J. Lees, i-Parkinson chimera. I-Neurology 2009; 72; S2-S11; I-Mochizuki H. Gene yokwelashwa kwesifo sikaParkinson. Uchwepheshe we-Rev Neurother. 2007 Aug; 7 (8): 957-60.