Le Isifo sePrader-Willi (PWS) yisifo esibonakala lapho umuntu ezalwa ngenxa yokuntula ithoni yemisipha (hypotonia), isisindo esiphansi nobude obuvamile, nobunzima bokudla, okulandelwa ukukhuluphala ngokushesha okuhambisana nokudla ngokweqile ngesikhathi sobuntwana. Ngokusho kokwanda kwalesi sifo ngenxa yokungajwayelekile kofuzo kulinganiselwa ku-1 kubahlali abangama-50. Izakhi zofuzo ezithintekayo zitholakala engxenyeni i-chromosome engu-15. Ngaphezu kwama-chromosome obulili, kupheya ngalinye lamakhromozomu, ikhophi eyodwa itholwa ngofuzo kumama kanti enye kubaba.
Ngaphansi kwezimo ezijwayelekile, izakhi zofuzo kulesi sifunda azisebenzi ku-chromosome 15 kamama, kodwa ziyasebenza I-chromosome kababa 15. Kodwa ezinganeni ezine-PWS, lesi sifunda se-chromosome yoyise asisebenzi noma silahlekile. Abacwaningi baseDuke University, e-United States, basendleleni ethembisayo yokwelapha, njengoba bephumelele ukuthuthukisa isidakamizwa ekwazi ukwenza kusebenze le ngxenye ekhophini likamama lofuzo kumagundane agulayo.
Amagundane akhula kangcono futhi aphile isikhathi eside
Laba bakamuva bakhula kabi, njengezinsana ezine-PWS, futhi abazange baphile. Imithi ebizwa nge-UNC0642 iqondise izakhi zofuzo kamama ngoba ngokungafani nezakhi zofuzo zikababa, lezi zitholakala njalo ezigulini ezine-PWS. Ngalokhu kwelashwa, amagundane alashiwe abonisa ukukhula kanye kwesisindo ephakeme kunamagundane angalashiwe. Ngaphezu kwalokho, u-15% wabo wasinda waze waba abantu abadala ngaphandle kokubonisa imiphumela emibi kakhulu.
Umuthi usebenza ngokuvimbela ukusebenza kwephrotheni ebizwa nge-G9a, okuthi, kanye namanye amaprotheni, ahlangane. izakhi zofuzo zikamama ngokuqinile ku-chromosome. Yize sekukonke, ucwaningo lukhombisa ukuthi umuthi ukhombisa isithembiso, abacwaningi bakholelwa ukuthi ucwaningo olwengeziwe lusadingeka. Bafuna ukuhlola imiphumela yaso kwezinye izimpawu zesifo ezivela kamuva, phakathi neminyaka emi-2, njenge ukusebenza ngokweqile okuphoqelekile nokukhuluphala.