He aha ka Gene JAK2?

Anter

• Hōʻike Overview
• Nā genetics a me nā maʻi
• Hana JAK2 maʻamau
• JAK2 a me nā maʻi koko
• ʻImi noiʻi JAK2

Hōʻike Overview

ʻO ka enzyme JAK2 ka mea nui o ka noiʻi i kēia mau lā no ka mālama ʻana no ka myelofibrosis (MF). ʻO kekahi o nā hana ʻoi loa a hoʻohiki loa hoʻi no MF he lāʻau lapaʻau e kū a hōʻemi paha i ka nui o ka hana a ka JAK2 enzyme. Kōkua kēia i ka hoʻolōʻihi i ka maʻi.

E hoʻomau i ka heluhelu ʻana e aʻo e pili ana i ka JAK2 enzyme, a pehea e pili ai i ka ʻāpana JAK2.

Nā genetics a me nā maʻi

I mea e ʻike pono ai i ka moʻomeheu JAK2 a me ka enzyme, he mea kōkua ka loaʻa ʻana o ka ʻike maʻamau i ka hana pū ʻana o nā genes a me nā enzyme i loko o kā mākou kino.

ʻO kā mākou ʻāpana nā ʻōkuhi a i ʻole nā ​​blueprints no kā mākou kino e holo. Loaʻa iā mākou kahi o kēia mau kuhikuhi i loko o kēlā me kēia cell o ko mākou kino. 'Lelo lākou i kā mākou mau pūnaewele pehea e hana ai i nā protein, e hele a hana i nā enzymes.

Hāʻawi nā ʻenima a me nā proteins i nā leka i nā ʻāpana ʻē aʻe o ke kino e hana i kekahi mau hana, e like me ke kōkua ʻana me ka digestion, ka paipai ʻana i ka ulu ʻana o ka pūnaewele, a i ʻole ka pale ʻana i ko mākou kino mai nā maʻi.

Ke ulu a mahele a kā mākou mau ʻāpana, hiki i kā mākou mau ʻāpana i loko o nā huna ke loaʻa nā hoʻololi. Hāʻawi ke kikowaena i kēlā hoʻololi i kēlā me kēia cell āna e hana ai. Ke loaʻa i kahi ʻāpana kahi hoʻololi, hiki iā ia ke paʻakikī i ka heluhelu ʻana i nā blueprint.

I kekahi manawa, hana ka hoʻololi i kahi kuhi hewa i hiki ʻole ke heluhelu ʻia i hiki ʻole i ka pūnaewele ke hana i kekahi protein. I nā manawa ʻē aʻe, hana ke hoʻololi i ka protein i ka hana i ka manawa āpau a i ʻole ke huli mau. Ke hoʻohaunaele kahi mutation i ka protein a me ka hana enzyme, hiki iā ia ke kumu i ka maʻi i ke kino.

Hana JAK2 maʻamau

Hāʻawi ka ʻāpana JAK2 i kā mākou pūnaewele i nā kuhikuhi no ka hana ʻana i ka protein JAK2, kahi e paipai ai i ka ulu ʻana o nā hunaola. He mea nui ka ʻāpana JAK2 a me ka enzyme no ka kaohi ʻana i ka ulu a me ka hana ʻana o nā hunaola.

He mea nui lākou no ka ulu a me ka hana ʻana o nā hunaola koko. Hana nui ka ʻenekema JAK2 i nā hunaola paʻa i ko mākou iwi iwi. ʻIke ʻia hoʻi he mau hunaola hematopoietic, kuleana kēia mau huna i ka hana ʻana i nā huna koko hou.

JAK2 a me nā maʻi koko

Loaʻa nā hoʻololi i nā poʻe me MF ke kumu e huli mau ai ka enzyme JAK2. ʻO ke kumu o ka hana mau ʻana o ka enzyme JAK2, kahi e alakaʻi ai i ka hana nui ʻana o nā hunaola i kapa ʻia he megakaryocytes.

Hōʻike kēia mau megakaryocytes i nā hunaola ʻē aʻe e hoʻokuʻu i collagen. A ʻo kahi hopena, hoʻomaka ke kūkulu ʻana i nāʻiʻo ma ka iwi o ka iwi - ka hōʻailona haʻi o MF.

Pili pū nā hoʻololi ʻana i ka JAK2 i nā maʻi koko ʻē aʻe. ʻO ka pinepine, hoʻopili ʻia nā hoʻololi i kahi ʻano i kapa ʻia polycythemia vera (PV). I ka PV, hoʻonāuki ka JAK2 mutation i ka hana ʻana o ke kōpō koko i kāohi ʻole ʻia.

Ma kahi o 10 a 15 pākēneka o ka poʻe me PV e hoʻomau i ka hoʻomohala iā MF. ʻAʻole ʻike ka poʻe noiʻi he aha nā mea e ulu ai kekahi poʻe me ka mutation ʻo JAK2 e hoʻomohala iā MF ʻoiai ʻo nā mea ʻē aʻe e hoʻomohala iā PV ma kahi.

ʻImi noiʻi JAK2

Ma muli o ka loaʻa ʻana o nā mutation ʻo JAK2 ma mua o ka hapalua o ka poʻe me MF, a ma luna o 90 pākēneka o ka poʻe me PV, ua lilo ia i kumuhana o nā papahana noiʻi he nui.

Hoʻokahi wale nō lāʻau i ʻae ʻia e ka FDA, i kapa ʻia ʻo ruxolitinib (Jakafi), e hana nei me nā ʻenekia JAK2. Hana kēia lāʻau lapaʻau ma ke ʻano he mea kāohi JAK, ʻo ia hoʻi ka lohi o ka hana a JAK2.

Ke lohi ka hana ʻana o ka enzyme, ʻaʻole i huli mau ka enzyme. Ke alakaʻi nei kēia i ka liʻiliʻi o ka megakaryocyte a me ka hana collagen, e hoʻoliʻiliʻi loa i ka hana ʻana o nā mākala ma MF.

Hoʻoponopono pū ka lāʻau ruxolitinib i ka hana ʻana o nā hunaola koko. Hana ia i kēia me ka hoʻolohi i ka hana o JAK2 i nā hunaola hematopoietic. He mea kōkua kēia i nā PV a me MF.

I kēia manawa, nui nā hoʻokolohua hoʻokolohua e kia ana i nā mea kāohi iā JAK.Ke hana pū nei nā mea noiʻi i ka pehea e hoʻoponopono ai i kēia genona a me ka enzyme e lana ka manaʻo e loaʻa kahi lapaʻau maikaʻi aʻe a i ʻole kahi lāʻau no MF.