Le ʻĀnana Prader-Willi (PWS) he maʻi i ʻike ʻia ma ka hānau ʻana me ka nele o ka leo ʻiʻo (hypotonia), haʻahaʻa ma mua o ke kaumaha a me ke kiʻekiʻe maʻamau, a me ka paʻakikī o ka hānai ʻana, a ukali ʻia e ka momona mua e pili ana i ka ʻai nui i ka wā kamaliʻi. Wahi a ka laha ʻana o kēia maʻi ma muli o kahi abnormality genetic i manaʻo ʻia ma 1 no 50 mau kānaka. Aia nā genes e pili ana ma kahi ʻāpana o ka chromosome 15. Ma waho aʻe o nā chromosomes sex, no kēlā me kēia pālua o nā chromosomes, hoʻokahi kope i hoʻoili ʻia mai ka makuahine a ʻo kekahi mai ka makua kāne.
Ma lalo o nā kūlana maʻamau, ʻaʻole hana nā genes ma kēia māhele ma ka chromosome 15 makuahine, akā hana ma ka chromosome makua 15. Akā i nā kamaliʻi me ka PWS, ʻaʻole hana a nalo paha kēia māhele o ka chromosome makua. ʻO ka poʻe noiʻi ma ke Kulanui ʻo Duke, ma ʻAmelika Hui Pū ʻIa, aia ma ke ala maikaʻi o kahi lapaʻau, ʻoiai ua kūleʻa lākou i ka hoʻomohala ʻana. he lāʻau lapaʻau hiki ke hoʻoikaika i kēia ʻāpana ma ke kope makuahine o ka gene i nā ʻiole maʻi.
ʻOi aku ka maikaʻi o ka ʻiole a ola lōʻihi
Ua ulu maikaʻi ka hope, e like me nā kamaliʻi me ka PWS, a ʻaʻole i ola. ʻO ka lāʻau lapaʻau kapa ʻia ʻo UNC0642 hoʻopaʻa i nā genes makuahine no ka mea ʻaʻole like me nā genes paternal, loaʻa mau kēia i nā maʻi me ka PWS. Me kēia lāʻau lapaʻau, hōʻike nā ʻiole i mālama ʻia i ka ulu a me ka waiwai waiwai kiʻekiʻe ma mua o nā ʻiole i mālama ʻole ʻia. Eia kekahi, 15% o lākou i ola a hiki i ka wā makua me ka ʻole o ka hōʻike ʻana i nā hopena koʻikoʻi.
Hoʻohana ka lāʻau lapaʻau ma ke kāohi ʻana i ka hana o kahi protein i kapa ʻia ʻo G9a, kahi e hui pū ai me nā protein ʻē aʻe. nā genes makuahine paa i ka chromosome. ʻOiai ʻo ka holoʻokoʻa, hōʻike ka haʻawina i ka lāʻau lapaʻau e hōʻike i ka ʻōlelo hoʻohiki, manaʻo ka poʻe noiʻi e pono ana nā noiʻi hou aku. Makemake lākou e loiloi i kona hopena i nā hōʻailona ʻē aʻe o ka maʻi e ʻike ʻia ma hope, ma kahi o 2 mau makahiki, e like me hoʻopaʻa hana nui a me ka momona.