2012年10月30日 訊 /生物谷BIOON/ --近日，以色列,，美國(guó)和其他國(guó)家研究人員共同合作在再生醫(yī)學(xué)領(lǐng)域中獲得了突破性研究進(jìn)展,，研究結(jié)合首次概述與心臟和面部肌肉出生缺陷相關(guān)的基因調(diào)控,。
約1％的人有先天性心臟缺陷,，這項(xiàng)新研究將便于科學(xué)家們利用患者自身的干細(xì)胞來(lái)修復(fù)缺陷。這項(xiàng)研究結(jié)果在線發(fā)表在PNAS雜志上,。俄勒岡州立大學(xué)藥學(xué)院副教授Chrissa Kioussi說(shuō)：隨著再生醫(yī)學(xué)和發(fā)育生物學(xué)的發(fā)展,，我們不再需要制造人類胚胎干細(xì)胞來(lái)治療疾病,。
Kioussi說(shuō)：來(lái)自患者的干細(xì)胞可以變成任何需要的細(xì)胞類型。關(guān)鍵是了解干細(xì)胞演變過(guò)程總確切的監(jiān)管過(guò)程,。一旦我們了解這些基因控制機(jī)制和足夠細(xì)節(jié),，我們不但能把干細(xì)胞轉(zhuǎn)化為皮膚細(xì)胞，也能將這種干細(xì)胞分化為病人恢復(fù)所需要的細(xì)胞類型,。
在這項(xiàng)研究中,，研究人員發(fā)現(xiàn)了4個(gè)具體的“轉(zhuǎn)錄因子”基因控制心臟和頭部肌肉形成過(guò)程。在這個(gè)過(guò)程中,，基因有缺陷時(shí)，其結(jié)果可能是人死亡或巨大傷害性的如唇顎裂,，面部畸形和有缺陷的心臟瓣膜,。
Kioussi說(shuō)：人類基因組中有大約20,000個(gè)基因，但只有2000多種轉(zhuǎn)錄因子基因,。這些轉(zhuǎn)錄因子基因控制遺傳機(jī)制,。科學(xué)家們發(fā)現(xiàn),，這些轉(zhuǎn)錄因子不會(huì)單獨(dú)在哺乳動(dòng)物細(xì)胞中發(fā)揮作用,， 它們至少有兩個(gè)或三個(gè)一起穩(wěn)定組合共同發(fā)揮作用。在這項(xiàng)再生醫(yī)學(xué)研究工作中,，研究人員關(guān)心細(xì)胞分化所有步驟,。如果能知道所有的步驟，就能機(jī)體缺陷出錯(cuò)在哪里,，可以找出解決它的方法,。（生物谷：Bioon.com）
doi:10.1073/pnas.1208690109
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Pharyngeal mesoderm regulatory network controls cardiac and head muscle morphogenesis
Itamar Harela, Yoshiro Maezawab, Roi Avrahama, Ariel Rinona, Hsiao-Yen Mac, et al.
The search for developmental mechanisms driving vertebrate organogenesis has paved the way toward a deeper understanding of birth defects. During embryogenesis, parts of the heart and craniofacial muscles arise from pharyngeal mesoderm (PM) progenitors. Here, we reveal a hierarchical regulatory network of a set of transcription factors expressed in the PM that initiates heart and craniofacial organogenesis. Genetic perturbation of this network in mice resulted in heart and craniofacial muscle defects, revealing robust cross-regulation between its members. We identified Lhx2 as a previously undescribed player during cardiac and pharyngeal muscle development. Lhx2 and Tcf21 genetically interact with Tbx1, the major determinant in the etiology of DiGeorge/velo-cardio-facial/22q11.2 deletion syndrome. Furthermore, knockout of these genes in the mouse recapitulates specific cardiac features of this syndrome. We suggest that PM-derived cardiogenesis and myogenesis are network properties rather than properties specific to individual PM members. These findings shed new light on the developmental underpinnings of congenital defects.
