Le Prader-Willi chirwere (PWS) chirwere chinoratidzwa pakuzvarwa nekushaya tsandanyama tone (hypotonia), yakaderera pane yakajairika uremu uye kureba, uye kunetseka kudya, kuteverwa nekufutisa kwekutanga kunoenderana nekudya zvakawandisa panguva yehudiki. Maererano nehuwandu hwechirwere ichi nekuda kwekusagadzikana kwemajini kunofungidzirwa kune 1 pavagari ve50. Majini anobatanidzwa anowanikwa pane chikamu chromosome 15. Mukuwedzera kumakromosome evatano, pairi imwe neimwe yemakromozomu, kopi imwe inogarwa nhaka kubva kuna amai uye imwe kubva kuna baba.
Mumamiriro ezvinhu akajairwa, majini munharaunda ino haashande pachromosome yaamai 15, asi inoshanda chromosome yababa 15. Asi muvacheche vane PWS, iyi nharaunda yechromosome yababa haishande kana kushaikwa. Vatsvakurudzi vepaDuke University, muUnited States, vari munzira inovimbisa kurapwa, sezvo vakabudirira mukurapa. mushonga inokwanisa kumisa chikamu ichi pane kopi yaamai yejini mumakonzo anorwara.
Mbeva dzinokura zviri nani uye dzinorarama kwenguva refu
Vekupedzisira vakakura zvisina kunaka, sevacheche vane PWS, uye havana kurarama. Mishonga inonzi UNC0642 inotarisa majini aamai nekuti kusiyana nemajini ababa, aya anowanikwa muvarwere vane PWS. Nekurapwa uku, mbeva dzairapwa dzairatidza kukura uye kurema kuwanikwa yakakwirira kudarika mbeva dzisina kurapwa. Mukuwedzera, 15% yavo vakararama kusvika vakura vasina kuratidza migumisiro yakakomba.
Mushonga unoshanda nekudzivisa kuita kweprotein inonzi G9a, iyo, pamwe nemamwe mapuroteni, inoungana. majini aamai zvakasimba muchromosome. Nepo zvakazara, chidzidzo ichi chinoratidza mushonga kuratidza vimbiso, vaongorori vanotenda zvimwe zvidzidzo zvichiri kudiwa. Vanoda kuongorora mhedzisiro yayo pane zvimwe zviratidzo zvechirwere zvinoonekwa gare gare, kutenderera zera re2 makore, senge. kumanikidzira kushanda zvakanyanyisa uye kuneta.