Inhibitory neurons urufunguzo rwo gusobanukirwa nindwara zo mu mutwe

Ubwonko bukora kuko miliyari 100 zingirabuzimafatizo zidasanzwe zitwa neuron zigenga trillioniyo ihuza itwara kandi itunganya amakuru. Imyitwarire ya buri neuron igenwa neza nuburyo bukwiye bwa genes nyinshi.

Mu 1999, Baylor College of Medicine (www.bcm.edu) umushakashatsi Dr. Huda Zoghbi (http://www.bcm.edu/genetics/index.cfm?pmid=11053), na bagenzi be bagaragaje ihinduka ry’imihindagurikire muri kimwe muri ibyo. ingirabuzimafatizo zitwa MECP2 nk'icyaha mu ndwara mbi ya neurologiya yitwa Rett syndrome (http://www.nichd.nih.gov/ubuzima/topics/rett_syndrome.cfm). Mu bushakashatsi bushya bw’imbeba zasohotse mu nomero iriho yikinyamakuru Kamere (www.nature.com), Zoghbi na bagenzi be berekana ko gutakaza poroteyine MeCP2 mu itsinda ryihariye ry’ingirabuzimafatizo zo mu bwonko byerekana hafi ya syndrome ya Rett. ibiranga.

Abana, cyane cyane abakobwa, bavukanye syndrome ya Rett, bagaragara nkibisanzwe, ariko guhagarika cyangwa gutinda gukura mubwenge na moteri hagati y'amezi atatu nimyaka itatu, gutakaza imvugo, guteza imbere imyigire nibibazo byo kugenda. Bimwe mubimenyetso byabo bisa nibya autism.

Izi inhibitori (gamma-amino-butyric-acide [GABA] -ergic) neuron zigizwe na 15 kugeza kuri 20% byumubare rusange wa neuron mubwonko. Gutakaza MeCP2 bitera igabanuka rya 30 kugeza 40 ku ijana bya GABA, imiti yerekana ibimenyetso byakozwe na neuron. Iki gihombo kibangamira uburyo izo neuron zishyikirana nizindi neuron mubwonko. Izi neuron zibuza kubika feri kuri sisitemu yitumanaho, bigafasha kohereza amakuru neza.

Dr. Hsiao-Tuan Chao (http://www.bcm.edu/labs/zoghbi/Lab_members_info/) yagize ati: "Mubyukuri, kubura kwa MeCP2 bibangamira neurone ya GABAergic ninzego zingenzi zigenga ihererekanyamakuru mu bwonko". chao.html), umunyeshuri wa MD / Ph.D muri laboratoire ya Zoghbi akaba n'umwanditsi wa mbere wa raporo.

Chao yakoze ivumburwa ategura igikoresho gishya cyangwa imiterere yimbeba yemerera abashakashatsi kuvana MeCP2 muri neuron ya GABAergic gusa.

Chao ati: "Twakoze ubu bushakashatsi twibwira ko ahari ibyo tuzabona ari ibimenyetso bike bya syndrome ya Rett". "Igitangaje, twabonye ko kuvana MeCP2 muri neurone ya GABAergic gusa byerekanaga ibintu byose biranga syndrome ya Rett, harimo defisititike ya cognitifique, ingorane zo guhumeka, imyitwarire ihatira, ndetse no gusubiramo ibintu bitandukanye. Ubushakashatsi butubwira ko MeCP2 ari poroteyine y'ingenzi mu mikorere ya iyi neuron."

Abanditsi bamaze kumenya ko ikibazo cyingenzi cyarebaga na neuron ya GABAergic, bashatse kumenya uburyo kubura MeCP2 byahungabanije imikorere yiyi neuron. Chao yavumbuye ko gutakaza MeCP2 byatumye neurone ya GABAergic irekura gake ya neurotransmitter, GABA. Ibi bibaho kuko gutakaza MeCP2 bigabanya ingano ya enzymes zisabwa kugirango umusaruro wa GABA.

Igishimishije ni uko ubushakashatsi bwibanze bwerekanye ko imvugo y’iyi misemburo igabanuka no ku barwayi bamwe na bamwe bafite ikibazo cya autism, schizofrenia na bipolar disorder, nk'uko Chao yabitangaje.

Chao ati: "Ibi biratubwira byinshi ku bibera mu bwonko bw'abantu barwaye syndrome ya Rett, autism cyangwa se schizofrenia". "Umwana yavutse afite ubuzima bwiza. Atangira gukura hanyuma atangira gutakaza intambwe yiterambere. Itumanaho hagati ya neuron rirabangamiwe, bitewe nuko ibimenyetso byagabanijwe na neurone ya GABAergic."

Zoghbi, ushinzwe iperereza mu kigo cy’ubuvuzi cya Howard Hughes, akaba n’umuyobozi w’ikigo cy’ubushakashatsi cy’ubuvuzi cya Jan na Dan Duncan, yagize ati: Ibitaro.