Le Matenda a prader-Willi (PWS) ndi matenda omwe amadziwika pa kubadwa chifukwa cha kuchepa kwa minofu (hypotonia), yotsika kulemera ndi kutalika kwake, ndi kuvutika kudya, kutsatiridwa ndi kunenepa kwambiri komwe kumayenderana ndi chakudya chambiri paubwana. Malinga ndi kufalikira kwa matendawa chifukwa cha matenda amtundu wa chibadwa akuti 1 pa 50 okhalamo. Ma jini omwe akukhudzidwa amakhala mbali ina chromosome 15. Kuwonjezera pa ma chromosome akugonana, pagulu lililonse la ma chromosome, kope limodzi limachokera kwa mayi ndipo linalo kwa atate.
Nthawi zonse, majini m'chigawo chino sagwira ntchito pa chromosome 15 ya amayi, koma imagwira ntchito chromosome ya abambo 15. Koma mwa makanda omwe ali ndi PWS, gawo ili la chromosome ya abambo silikugwira ntchito kapena likusowa. Ofufuza a pa yunivesite ya Duke, ku United States, ali pa njira yabwino yopezera chithandizo, chifukwa akwanitsa kupeza chithandizo chabwino kwambiri. mankhwala wokhoza kuyambitsa gawo ili pa chithunzi cha amayi cha jini mu mbewa zodwala.
Mbewa zimakula bwino ndikukhala moyo wautali
Omalizawo adakula bwino, monga makanda omwe ali ndi PWS, ndipo sanakhale ndi moyo. Mankhwala Chithunzi cha UNC0642 imayang'ana majini a amayi chifukwa mosiyana ndi majini a abambo, awa amapezeka mwa odwala omwe ali ndi PWS. Ndi mankhwalawa, mbewa zochizira zikuwonetsa kukula ndi kunenepa apamwamba kuposa mbewa zosagwiritsidwa ntchito. Kuphatikiza apo, 15% ya iwo adapulumuka mpaka akakula osawonetsa zotsatira zoyipa.
Mankhwalawa amagwira ntchito poletsa kugwira ntchito kwa puloteni yotchedwa G9a, yomwe, pamodzi ndi mapuloteni ena, amasonkhana. majini a amayi kwambiri mu chromosome. Ngakhale zonse, kafukufukuyu akuwonetsa kuti mankhwalawa akuwonetsa lonjezo, ofufuza amakhulupirira kuti maphunziro ochulukirapo akufunikabe. Akufuna kuwunika zotsatira zake pazizindikiro zina za matendawa zomwe zimawoneka pambuyo pake, pafupifupi zaka 2, monga kulimbikira ntchito ndi kunenepa kwambiri.