小腦 (cerebellum)是脊椎動物(Vertebrates) 大腦組織里很重要的一個組織，它所構(gòu)成的神經(jīng)組織,，控制著身體的運動功能,，因此小腦的發(fā)育,，就顯得非常的重要,。三月份剛出版的 PNAS期刊上,，科學(xué)家發(fā)表最新的研究結(jié)果顯示,，研究人員已經(jīng)找到了一個關(guān)鍵的基因,，負責(zé)調(diào)控胚胎發(fā)育過程中的小腦組織,。
主要領(lǐng)導(dǎo)這個研究計劃的 Eduardo Soriano博士解釋指出，這次參與的科學(xué)家找到了一個稱為 Ptf1a/p48的基因,，就初步的研究結(jié)果顯示,，缺少 Ptf1a/p48這個基因的活動,，神經(jīng)母細胞雖然在發(fā)育的過程中，會變化成浦金氏神經(jīng)細胞 (Purkinje neuron),，但卻無法再進一步分化成為功能成熟的神經(jīng)細胞,，因此 Ptf1a/p48基因活動的功能，就好像一個決定小腦發(fā)育的開關(guān)一樣,，決定著小腦的命運,。
為了了解 Ptf1a/p48基因的活動角色，研究人員利用基因剔除技術(shù),，設(shè)計出新的分析模式,，去了解小腦相關(guān)細胞的分化方式，之后證實了一個特殊的轉(zhuǎn)錄分子 (transcription factor),，也參與這些神經(jīng)細胞的分化,。
相關(guān)的科學(xué)家指出,，這個 Ptf1a/p48基因的現(xiàn)身,，給了相關(guān)研究人員一個切入的機會，也許在不久的將來,，小腦運動失調(diào) (cerebellar ataxias)的疾病 就不再是個不知道發(fā)病原因的疾病了。
(資料來源 : Bio.com)
英文原文：
Researchers discover gene essencial to cerebellum formation
Scientists have identified a molecular switch that causes the differentiation of neurons in the cerebellum, a part of the brain that helps to regulate motor functions.
A study published this week in the scientific journal PNAS provides new information on the origin of different cells in the cerebellum, an important component of the central nervous system found in all vertebrates, including humans, and the part of the brain that controls movement. The study was completed by researchers from the Institute for Research in Biomedicine (IRB Barcelona), the Department of Cell Biology of the University of Barcelona (UB), the IMIM-Hospital del Mar, Pompeu Fabra University (UPF) and Vanderbilt University (Nashville, Tennessee, USA). The main authors of the study are Dr. Marta Pascual (IRB Barcelona and UB) and Ibane Abasolo (IMIM-Hospital del Mar-UPF).
Co-author of the study, Francisco X. Real, coordinator of the Research Unit on Cell and Molecular Biology at IMIM-Hospital del Mar and Professor at the UPF, explains that "this discovery sheds new light on the mechanisms of brain formation and has potential future applications for regenerative medicine. It provides crucial insight into the manipulation of truncal nerve cells (or stem cells) and their selective differentiation into 'gabergic' neurons, or cells that contain the neurotransmitter gamma-aminobutyric acid (GABA) and that act as inhibitors.
Eduardo Soriano, Principal Investigator of the Developmental Neurobiology and Regeneration laboratory at IRB Barcelona, and professor at the UB, maintains that the study explains two important principles: first, "that the protein Ptf1a/p48 is needed for the production and differentiation of Purkinje neurons, the most important cells in the cerebellum"; and second, "that in the absence of this protein, the progenitor cells that should produce Purkinje neurons do not differentiate correctly and instead produce a different type of neuron, granular cells, indicating that Ptf1a/p48 acts as a molecular switch."
The researchers hypothesized that a transcription factor, whose function is well known in the pancreas and which appears to play a role in the nervous system, is also involved in the development of the cerebellum. In order to test their idea, and characterize the new mechanism of cell differentation, the authors used mice with a disactivated gene that codes for the Ptf1a/48 protein, and compared them with mice that express the gene normally. Their conclusions provide new insight into origin of nerve cells that form the cerebellum in higher organisms.
In a second research project, led by Francisco Real and Eduardo Soriano and funded by the Fundaci?La Caixa, the scientists aim to explore the potential of this gene to produce Purkinje neurons in a laboratory setting. The researchers will investigate whether the expression of Ptf1a/p48 can induce the production of Purkinje cells from stem cells and neurospheres, progenitor cells of adult neurons. This study is an important step toward understanding rare diseases, such as cerebellar ataxias, which is characterized by the degeneration of Purkinje cells. Producing this type of cell in the lab may lead to future neuronal replacement therapy.
